s e i b a b r e t t e b = s s e r t s s s e l = n i a p s s e L Some GI malformations \200\207Bilious (green) vomiting in neonates always needs urgent hel p (pediatric surgeon + neonatology team) for prompt investigation and management. 231 Hirsc hsprung \200\231s disease Occurs in 1 in 5000 births. 232 Congenital absence of ganglia in a segment of colon (or in the rare \200\230long-segment \200\231 disease, can be all the w ay up to the stomach) leading to functional GI obstruction, constipation and megacolon. Fec es may be felt per abdomen, and PR exam may reveal tight anal sphincter and explosive disch arge of stool and gas. \200 : \200 \211\210 3 : 1. Com- plications: GI perforation, blee ding, ulcers, enterocolitis (may be life-threat- ening). Short-gut syndrome after surgery. Tests: Diagnosis through rectal suction biopsy of the aganglionic section, staining for ace tylcholinesterase- positive nerve excess, is most accurate. 233 Excision of the aganglionic segment is needed colostomy. Oesophageal atresia (OA) + Tracheo-oesophageal \201 stul a (TOF) A spectrum of abnormalities with OA plus a distal TOF being the most common (86%). Iso- lated OA (7%) and TOF without OA (4%) can also occur. 234 Prenatal signs: Poly- hydram nios; small stomach. Postnatal: Cough, airway obstruction, \200\200secretions, blowing bub bles, distended abdomen, cyanosis, aspiration. \201\231 : Inability to pass a catheter int o the stomach; X-rays show it coiled in the esophagus. Avoid con- trast imaging. \201\227: Stop feeding, suck out oesophageal pouch. Primary surgical repair is possible in the major ity of cases. 235 50% have other anomalies. Congenital diaphragmatic hernia (CDH) A develop mental defect in the dia- phragm allowing herniation of abdominal contents into the chest. Leads to impaired lung development (pulmonary hypoplasia and pulmonary hyperten- sion). Inc idence: 1 : 3700. 236 Diagnosis: Prenatal: ultrasound; postnatal: CXR. Signs: Diffi cult re suscitation at birth; respiratory distress; bowel sounds in one hemithorax (usually left so heart is best heard on the right). pH <7. 3 and cyanosis augur badly ( \200\223 lung hypop lasia). 237 Associations: other malforma- tions (neural tube in 50%); trisomy 18; chromosom e deletions eg at 15q2, Pierre Robin (p138). 238 Treatment: \200 Prenatal: Fetal surgery is not usually practical or available (tracheal obstruction may be tried: it encourages lun g growth, so pushing out other viscera) \200\224but premature birth may be caused. 239 \200 Post- natal: Insert a large-bore nasogastric tube when diagnosis suspected: at birth if prenatal diagnosis. The aim is to keep all air out of the gut. Facemask ventila- tion is contraindicated (so immediately intubate, ventilate, and paralyze, with minimal pressures) . Get surgery in an appropriate center. Inguinal hernias These are due to a patent processu s vaginalis (the passage which ushers the descending testicle into the scrotum). They prese nt as a bulge lateral to the pubic tubercle, eg during crying. In one series (n=6361), \200 : \200 \211\2105 : 1; there were 59% right, 29% left, and 12% bilateral hernias (almo st all indirect), with a hydrocele in 19%. 240 Incarceration occurred in 12%. Most sur- geo ns aim to repair these promptly (laparoscopic repair is possible) 241 to avoid incarceratio n. Hydroceles are hard to distinguish from incarceration \200\224explore if in doubt. Hydro celes in infancy A processus vaginalis patent at birth, and allowing only \202 uid from t he peritoneal cavity to pass down it, generally closes during the \201 rst year of life \200\224so no action is usually needed. If it persists until the age of 2 it may need surgi cal exploration. 242 If the \202 uid- \201 lled sac is adjacent to the spermatic cord, i t is called an encysted hydrocele or a spermatic cord cyst. If the proximal opening of the processus vaginalis is wide, a true inguinal hernia is formed, and action is always require d. 243 Imperforate anus Covers a variety of anorectal abnormalities. Babies may have an ass ociated \201 stula starting in the rectum. Most girls have a posterior fourchette \201 stula; boys have a posterior urethral \201 stula (may pass meconium 130 Meckel \200\231s diverticulum: see p651. s c i r t a d e a P i in urine). Absence of perineal \201 stula in boys indicates communication with the urethr a (so colostomy may be required). Do GU imaging to show commonly associated GU abnormalitie s. Posterior sagittal anorectoplasty is possible. 244 Babies with Trisomy 21 commonly have imperforate anus without \201 stula. Mid-gut malrotations \200\207Bilious neonatal vomit ing merits immediate surgical referral (pass NGT). 245 Absent attachment of the small intes tine mesentery can cause mid-gut volvulus or obstruction of the third part of the duodenum by \201 brotic bands. Presentation may be late; passage of blood per rectum heralds mid-g ut necrosis \200\224and is an indication for emergency surgical decompression. Acute gastri c volvulus causes non-bilious vomiting, epigastric distention and signs of pain, and is oft en associated with abnormalities of adjacent organs. There may also be feeding diffi culty. Anterior \201 xation of the stomach to the anterior abdominal wall may be needed after u pper GI imaging. Anterior abdominal wall defects Gastroschisis (Fig 1): A paraumbilical def ect with evisceration (extrusion of vis- cera) of abdominal contents. Incidence: 1.6 : 10, 000; rising (especially in babies of young mothers 246 or fathers 247 \200\224or, in mul- t ips, if there has been a new father for this pregnancy (hence the idea that maternal immune factors play a role)). 248 Another hypothesis is that it is caused by a vascular event rel ated to cocaine use. Corrective surgery has a good outcome in 90% (so deliver where there a re good pediatric surgical facilities, if diagnosed pre- natally \200\224aim to diagnose at ultrasound). 249,250 Manage as per diaphragmatic hernia: aim to have no air in the gut, so intubate and paralyze at birth if in respiratory distress. Exomphalos (omphalocele) (Fig 2 ): Ventral defects of the umbilical ring with herniation of abdominal viscera (which are co vered in peritoneum) are com- mon and often associated with malformations such as chromosom al, cardiac, or genitourinary abnormalities. A small exomphalos may contain only a Meck- el \200\231s diverticulum while a large defect may contain the stomach, liver and blad- der. The growth of viscera outside the abdominal cavity may lead it to be pro- portionately smal l making reduction of visera more diffi cult. Antenatal: Most are identi \201 ed by routin e fetal anomaly scans (AFP \200\200 too). 252 Postnatal manage- ment: \200 Protect hernia ted viscera \200 Maintain \202 uids and electrolytes. \200 Prevent hypothermia, gastr ic decompression, prevention of sepsis, and maintenance of cardiorespiratory stability. \200 Primary or staged closure may be used to re- pair the defect. With big defects, closu re can cause respiratory insuffi ciency, haemodynamic compromise, dehiscence, and inability to close the abdomen and subsequent death. 252 After pulmonary and other comorbidities hav e stabi- lized, the omphalocele may gradually be reduced with a loose elastic bandage, with delayed closure at 6 to 12 months old. 252,253 131 s c i r t a i d e a P Fig 1. Gastroschisis. Exomphalos Gastroschisis Matted loops of bowel with no covering Umbilical clip Bowel covered by sac of amnion Defect to the right of the umbilicus Fig 2. Exomphalos. Genitourinary diseases Pre-auricular tags are markers of GU problems; consider GU ultrasoun d. 254 Undescended testis \200\224cryptorchidism (2 \200\2233% of neonates, 15 \200\22330% of prems; bilateral in 25% of these). On cold days retractile testes may hide in the ingui- nal pouch, eluding all but the most careful examination (eg while squatting, or with legs crossed, or in a warm bath they may be \200\230milked \200\231 down into position). These retractile testes need no surgery. If truly undescended it will lie along the path of desce nt from the abdominal cavity. Early (eg at 1 year) \201 xing with- in the scrotum (orchid opexy) may prevent infertility and reduces later neopla- sia (untreated, risk is \200\200 >5-fold). Intranasal gonadotrophin-releasing hormone is unreliable. NB: biopsy may cause la ter malignancy. 255 Posterior urethral valves present with oligohydramnios or absent or fee ble voiding ( uraemia and a palpable bladder). Micturating cystogram: posterior urethral dilatation. Laser resection is possible. Antenatal diagnosis: ultra- sound scan (USS) shows GU dilatation. Hypospadias (narrow meatus on ventral penis) Avoid circumcision: use fore- skin for preschool repair; attend to esthetic considerations. 256 Epispadias (meatus on dor sum of penis) May occur with bladder extrophy. Some congenital/genetic disorders Horseshoe kidney (crossed-fused kidney): Symp- toms: Silent or obstructive uropathy renal infec- t ions. USS diagnosis: kidneys \200\230too medial \200\231; lower pole \200\230too long \200\231; anterior-rotated pelvis; poorly de \201 ned inferior border; isthmus often invis ible. 257 Autosomal recessive polycystic kidney disease and congenital hepatic \201 brosi s (ARPKD-CHF) is characterized by cystic dilations of the collecting ducts associated with biliary dysgenesis and perio- portal \201 brosis. PKHD1 is the responsible gene (on short arm of chromosome 6). Typically diagnosed by prenatal ultrasound (hyperechogenic, large ki dneys oligohydramnios). Af- fects 1 in 40,000. Severe cases lead to pulmonary hypoplasia . 80% of those infants that survive the 1st month of live will live to 15. Aff ected childr en tend to develop hyponatraemia, hypertension and renal failure. The histology of the live r is always abnormal. Survivors risk UTIs and portal hypertension with hae- matemesis. 258 Ectopic kidney: May be seen on US scan (eg pelvic mass) or renal scintigraphy. Associations : anorectal abnormalities, UTIs; calculi. 259 Renal agenesis causes oligohydramnios, Potter \200\231s facies + death if bilateral. VACTERL association (vertebral, anal, cardiac, trac heoesophageal, renal and limb anomalies). Diagnosis: prenatal US scan. 260 Patent urachus: Urine leaks from the umbilicus. Image: excretory urogram. Bladder extrophy: Pubic separatio n with bladder exposure. 261 Double ureter: Associations: ureterocele, UTI, pyelonephritis; may be symp- tomless. Renal tubular defects: (eg renal glycosuria, cystinuria, or diabetes insipidus). In renal tubular acidosis conservation of \201 xed base is impaired, causing metabolic acidosis + alkaline urine. Symptoms: Failure to thrive; polyuria; polydipsia. 26 2 132 s c i r t a d e a P i Fig 1. Epispadias. Wilms \200\231 nephroblastoma This is the commonest renal tumor of childhood (6 \200\2237% of all malignancies). 263 It is an undiff erentiated mesodermal tumor of the intermediate c ell mass. It may be sporadic, or familial (2%), or associated with Beckwith \200\223Wiedema nn syndrome (BWS, p638), aniridia, GU malformations (eg cryptorchidism), and retardation (W AGR).1 One of the Wilms \200\231 tumor genes (WT1 on chromosome 11) encodes a protein which is a transcriptional repressor downregulating IGF-II, an insulin-like growth factor. 264 M edian age at presentation: 3.5yrs. 95% are unilateral. Staging: 133 I Tumor con \201 ned to the kidney II Extrarenal spread, but resectable III Extensive abdo minal disease IV Distant metastases V Bilateral disease s c i r t a i d e a P The patient: Features include fever, \202 ank pain, an abdominal mass. Haematu- ria is no t common. Ultrasound: renal pelvis distortion; hydronephrosis. CT/MRI provide the detailed anatomical information needed for surgical planning. 265 Management: Avoid biopsy; nephrect omy + vincristine and actinomycin for 4 weeks pre-op can cure. A 2-drug regimen is recommen ded for early Wilms \200\231 (without radiotherapy); more advanced stages need a 3-drug reg imen + radio- therapy. 266 Genetic and biological factors guide risk categorization and hel p individualize care. 267,268 N=382 Prognosis: 90% long-term survival. 269 1 Retardation is not always a feature: see Clin Dysmorphol 2007 16 69.270 Ambiguous genitalia (intersexuality) This is rare, but devastating for the parents. It can be an endocrinological emergency: refer promptly. \200\207Distinguish genetic, gonadal, ph enotypic (aff ect- ed by sex hormone secretion etc), psychological, and social-role sexuali ties. Male sex diff erentiation depends on SRY genes (on Y chromosomes) transform- ing an i ndiff erent gonad into a testis; its products (testosterone & Mullerian inhibiting substanc e) control fetal sex diff erentiation.1 271 Ask about Exposure to progesterone, testosteron e, phenytoin, aminogluteth- amide? Past neonatal deaths (adrenogenital syndrome recessive). Note phallic size and urethral position. Are the labia fused? Have the gonads descended? U ndescended impalpable testes are more likely to signify intersexuality than palpable maldes cended testes \200\224likewise with severity of hypospadias. 272 Tests Buccal smear (Barr b ody suggests \200 ); WBC mustard stains make Y chromosomes \202 uoresce; these take <24h vs 5 days for chromosome analy- sis. If there is a phallus and buccal smear is \200\230 \200 \200\231, diagnose adrenogenital syndrome or maternal androgens (drugs, tumors) or tr ue hermaphro- ditism, ie ovary and testis coexist (1 on each side) 46,XY, 46,XX, 45,XO/46,X Y or 45,X/47,XYY mosaic. 273 If a phallus and the buccal smear is \200 , tell mother the b aby is a boy. 134 s c i r t a d e a P i Fig 1. Ambiguous genitalia. Don \200\231t rely on appearances whenever there is: bilateral cryptorchidism (at term), even if a phallus is present; unilateral cryptorchi dism with hypospadias; penoscrotal or perineoscrotal hypospadias. Arrange examination by a pediatric endocrinologist to exclude androgen re- sistance (eg testicular feminization).1 G enetic tests are also vital: eg terminal deletion of 10q deletes genes essential for normal male genital development. 274 NB: if the stretched phallus is <25mm long, normal procreati on is unlikely. If there is uncertainty due to a short penis, a pediatric endocrinologist m ay try 3 days \200\231 treatment with human chorionic gonadotrophin. If the baby is a boy, the penis will grow (possibly even to normal length) after 5 days. 275 Aromatase de \201 c iency CYP19 genes are needed for normal oestrogenization: recessive mutations cause ambiguo us genitalia in 46,XX individuals; at puberty there is hypergonadotropic hypogonadism, with no secondary sexual charac- teristics, except for progressive virilization. Boys have norm al male sexual dif- ferentiation but are tall with brittle bones. Estrogen receptor gene mu tations are similar. 276 Note that sexual diff erentiation of the brain is mostly dependent on prenatal exposure to testosterone, and congenital aromatase de \201 ciency is thought not to disturb the maleness of brain development in men. But it is not known if this is tru e for sexually dimorphic brain areas possibly related to sexual orientation and gender iden tity, 277,278 eg the bed nucleus of the stria terminalis (BSTc is bigger in men but not in some male transsexuals). 279 Congenital adrenal hyperplasia (From \200\200secretion of and rogenic hormones \200\223 de \201 ciency of 21-hydroxylase, 11-hydroxylase, or 3- \200 -h ydroxysteroid dehydroge- nase). Cortisol is inadequately produced, and the consequent rise in adreno- corticotrophic hormone leads to adrenal hyperplasia and overproduction of androg enic cortisol precursors. CAH is a leading cause of male pseudohermaph- roditism. Incidence : 1 : 14000. 280 Signs: Vomiting, dehydration, and ambiguous genitalia. Girls may be mascul inized. Boys may seem normal at birth, but have precocious puberty, or ambiguous genitalia ( \200\201androgens in 17-hydroxylase de \201 ciency), or incomplete masculinization (hypo spadias with cryptorchidism from \200\2013 \200 -hydroxysteroid dehydrogenase). Hyponatrae mia (with paradoxically \200\200urine Na+) and hyperkalaemia are common. \200\200Plasma 1 7-hydroxyprogesterone in 90%; urinary 17-ketosteroids \200\200 (not in 17-hydroxylase de \201 cit). \200 Emergency treatment of adrenocortical crisis Babies may present with an adrenocortica l crisis (circulatory collapse) in early life. Other presentations include hyponatraemic se izures in infancy (often misdiagnosed as a febrile convulsion). \200 Urgent treatment is n eeded with 0.9% saline IVI (3 \200\2235g Na+/day), glucose, \202 udrocortisone 0.1mg/day PO and hydrocortisone \200\224neonate: 10mg slow IV stat, then 100mg/m2 daily by IVI; child 1 month \200\22312yrs: 2 \200\2234mg/kg/6h; if >12yrs: 100mg/6 \200\2238h slow IV. Assigni ng sex and gender \200\207There are two pieces of information every new parent is asked: t he weight and the sex. It is traumatic for them not to be able to tell. However, don \200 \231t shy away from telling patients that you do not know whether their baby is a boy or gi rl, and that tests must be done (it may be wise to await results before naming the child). This is unsatisfactory, but much better than hav- ing to re-assign gender. This is why a ne onate with ambiguous genitalia is a sexual emergency. Choice of gender must take into accou nt chromosomal and gonadal sex, the hormonal milieu during fetal life, surgical aspects, in - ternal anatomy, fertility issues, psychosexual development, and adult sexual function. NB : \200 karyotype does not guarantee absence of intra-abdominal testes \200\224so future r isks of malignancy have to be assessed too. 281 135 s c i r t a i d e a P Your job may be to assemble an optimum team: ie a pediatric endocrinolo- gist with psycholo gical expertise, and a laparoscopic surgeon skilled in neona- tal cystoscopy and genitograp hy as well as in reconstruction. Prenatal preparation entails comparing prenatal karyotype with US genital scans to formulat e an intersex diff erential diagnosis \200\224but US scans are unreli- able in >50% of \200 pseudohermaphroditism. 282,283 NB: it is common to assign \200 gender when in doubt , 284 but while some favor a gender compatible with the chromosomal sex, if possible, other s point out that this is a simpli \201 cation as we don \200\231t fully understand determi nants of gender role (social sex). 285,286 It is important not to think simply in terms of what promotes the greatest ef- \201 ciency in the act of sexual intercourse. 287 Advise against registering the birth until a de \201 nite treatment plan is in place. Once registered, legal sex cannot be changed in most countries. Screening for congen ital adrenal hyperplasia The common cause of adrenal hyperplasia is one of 10 gene defects (6p21.3; the gene is called CYP21) that cause de \201 ciency of 21-hydroxylase (which me- diates the penultimate step in cortisol biosynthesis). Corticotrophin-induced accumulation of 17OH-progesterone leads to \200\200levels of testosterone (via he- patic conversion). Most aff ected infants are also salt losers, as 21-hydroxy- lase is needed for aldosterone biosynthesis, and in boys this is usually the sole early manifestation (excess virilization may be early or in adulthood). Biochemical screening is rarely universal, but some centers use it in boys, aiming for diagnosis before life-threatening adrenal hyperplasia. (Girls a re detected by \201 nding virilization at neonatal examination providing the baby is not misdiagnosed as a boy \200\224also prenatal diagnosis is possible, and treat- able by givin g the mother dexamethasone from early in pregnancy.) One diffi culty is the diversity in time of onset and clinical presentation de- spite ident ical cyp21 mutations, making adrenal hyperplasia a continuum of disorders. Treatment is med ical and surgical (clitoral reduction and vagino- plasty). Growth and fertility are also im paired. 288 1 Androgens cause maleness in 46, XY individuals, provided no mutations in the X-linked and rogen recep- tor occur. Mutations cause more or less complete androgen insensitivity and fe male phenotype, with normal levels of testosterone and dihydrotestosterone (DHT). If there is partial insensitivity, topical (per- iscrotal) DHT (Andractim ) has been used to augmen t maleness, but if in vitro functional assays show this is impossible, babies are usually b rought up as girls.289 Congenital heart disease Incidence 8 : 1000 births (the most common type of birth defect). 290 2 ques- tions: Has the defect lead to decompensation? Poor feeding, dyspnoea, hepatomeg aly, engorged neck veins, pulse \200\200 (or \200\201, premorbidly) \200 \200\201System ic perfusion: weak pulse acidosis. \200 Pulmonary venous congestion: Is there cy- anos is? All defects can cause decompensation. Only right to left shunts cause cyanosis: some ba bies will seem well, but blue. Acyanotic causes (left to right shunt; NB: if pulmonary hype rtension devel- ops watch for shunt reversal + cyanosis, Eisenmenger, p642). Atrio-septal d e- fects (ASD), VSD, aortopulmonary window, patent ductus (PDA). Coarctation of the aorta. Any mild isolated valve lesion (eg pulmonary stenosis; prevalence 1 : 1000). 291 Cyanotic c auses (R to L shunt) Fallot \200\231s (p642, OHCM p151), transposition of great arteries; t ricuspid or pulmonary atresia, total anomalous pulmonary venous return (TAPVR). Hypoplastic left heart syndrome. Truncus arteriosus. Tests FBC, CXR, PaO2 (in air & 100% O2), ECG, 3D echo, cardiac catheter. VSD: (25% of cases) Symptoms: usually mild. Signs: harsh, loud, pan systolic \200\230blowing \200\231 murmur thrill. ECG: normal at birth. Later left (or c ombined) ventricular hy- pertrophy. CXR: pulmonary engorgement. Course: 20% close spontaneo usly by 9 months (maladie de Roger). Large defects may need surgery. ASD: (7% of cases) Sym ptoms: usually none. Signs: widely split, \201 xed S2 + systolic murmur due to a pulmonar y \202 ow murmur (upper left sternal edge). 292 The ASD itself does not cause a murmur. C XR: cardiomegaly, globular heart (primum defect). ECG: RVH incomplete R bundle branch bl ock. Patent ductus: Signs: failure to thrive, pneumonias, CCF, SBE, collapsing pulse, thril l, S2 \200\200, systolic pulmonary area murmur, or continuous machinery hum. CXR: vascular markings \200\200, big aorta. ECG: LVH. Dexamethasone in preterm labor helps close PDAs, as does ibuprofen 10mg/kg slow IV, then 5mg/kg after 24 & 48h is similar to indometacin 0.1mg / kg/24h (3 doses IV over 30min if 2 \200\2237 days old; see BNFc). 293 Meta-analyzes favor indometacin. 294 Beware: oliguria; renal failure; \200\201platelets. 295 Coarctation: Aor tic constriction makes feeling femoral pulses hard; BP \200\200 in the arms ( epistaxis) a nd \200\201 in legs, absent foot pulses, systolic murmur at the left sternal edge and b ack, heart failure. Think of this whenever there is shock, eg on days 3 \200\22310, when th e ductus closes. CXR: rib notching (very late). ECG: LVH. Transposition of great arteries ( TGA): Cyanosis, CCF, systolic murmur. CXR: egg-shaped heart. ECG: RVH. Balloon atrial se ptostomy allows oxygenated blood to reach the aorta via ASD. Correction is possible. 296 Pu lmonary stenosis: Pulmonary thrill and systolic murmur. See OHCM p142. Treatment \200 Tre at heart failure in babies with nasogastric feeds, sitting up- right, O2, furosemide 1mg/k g/24h slow IV spironolactone; digoxin (see BNFc) is rarely used. \200 You may be advis ed to keep the ductus open in duct-dependent cyanotic conditions with alprostadil (10 nanog rams/kg/min by IVI initially); in- tubate and ventilate if needed before transfer to specia lists; during transfer be alert to: T \200\201; Ca2+ \200\201; glucose \200\201; hypovola emia, apnoea. Open-heart surgery using hypothermia and circulatory arrest is possible at an y age, eg for: Fallot \200\231s, VSD, TGA, total anomalous pulmonary venous drainage (in wh ich pulmonary veins drain, eg into the portal system, causing CCF). Balloon valvuloplasty d ecreases need for open surgery in pulmonary stenosis (there is more of a problem with reste nosis and residual incompetence with aortic valvuloplasty). It is also em- ployed in coarct ation. Systemic to pulmonary shunts to enlarge an underde- veloped pulmonary arterial tree, before inserting a valve-bearing conduit is an example of palliative surgery. Prenatal scr eening echocardiography Sensitivity: 88%; speci \201 city and +ve predictive value: 100%. Intrauterine cardiac intervention is possible. 297 136 \200 \200 s c i r t a d e a P i 137 Murmurs and heart sounds in children We hear benign \202 ow murmurs (eg parasternal low-f requency \200\230twangs \200\231 in early systole) in 80% of children, at some time (eg w ith fever, anxiety, exercise). Still \200\231s murmur is an example, and may be abolished b y hyperextension of the back, and neck. Lack of other features distinguishes these from mal forma- tions: no clubbing; no cyanosis; no thrills; no rib recession; no clicks; no ar- rhy thmias; normal pulses & apex; no failure to thrive. When in doubt, get a skilled echocardio gram. CXR & ECG often mislead. 298 Another (validated) option is to use an electronic steth oscope and e-mail the sounds to a cardiologist. 299 Questions to ask yourself while listeni ng to the 2nd heart sound (S2) \200 Is it a double sound in inspiration, and single in ex piration? (Normal) \200 Is S2 split all the time? (ASD \200\224atrial septal defects) \200 Is S2 never split, ie single? Fallot \200\231s; pulmonary atresia; severe pulmonary s te- nosis; common arterial trunk; transposition of the great arteries (the ante- rior aorta masks sounds from the posterior pulmonary trunk). \200 s c i r t a i d e a P Is the pulmonary component (2nd part) too loud? (Pulmonary hypertension) NB: the 2nd heart sound is more useful diagnostically than the \201 rst. Points to note on hearing murmurs If you have an ear for detail! Timing: \200 Ejection systolic (innocent, or semilunar val ve or peripheral arterial stenosis). \200 Pansystolic with no crescendo \200\223decrescen do (VSD, mitral incompetence). \200 Late systolic, no crescendo \200\223decrescendo (mitr al prolapse, OHCM p138). \200 Early diastolic decrescendo (aortic or pulmonary incompeten ce). \200 Mid-diastolic crescendo \200\223decrescendo ( \200\200atrio-ventricular valve \202 ow, eg VSD, ASD; or tricuspid or mitral valve stenosis). An opening snap (OHCM p138) and presystolic accentuation suggest the latter. Continuous murmurs (PDA, venous hum, or arterio-venous \201 stula). Loudness: The 6 grade s for systolic murmurs: (Thrills mean pathology.) 1 Just audible with a quiet child in a qu iet room. 2 Quiet, but easily audible. 3 Loud, but no thrill. 5 Audible even if the stethos cope only makes partial contact with skin. 6 Audible without a stethoscope. 4 Loud with thrill. ( Sternum) AS PS ASD Place: Still \200\231s Mitral incompetence AS = aortic stenosis; PS = pulmonary stenosis VSD Accentuating/diminishing maneuvers Inspiration: Augments systemic venous return ( \200\230n egative \200\231 pressure draws blood from abdomen into the tho- rax), and therefore the mu rmurs of pulmonary stenosis and tricuspid regur- gitation. Expiration: Augments pulmonary v enous return and decreases sys- temic return, and therefore VSD, mitral incompetence, and a ortic stenosis too. In (mild) pulmonary stenosis, the ejection click is augmented by expira tion. Valsalva maneuver: \200\201Systemic venous return and benign \202 ow murmurs, but \200\200 murmurs from mitral incompetence and sub-aortic obstruction. Sitting or standing (vs lying): \200\201Innocent \202 ow murmurs, but \200\200 murmurs from subaor- tic obs truction or from a venous hum (places to listen: right base; below left clavicle; neck \200 \224it is abolished by gently pressing the ipsilateral jugular; PDA murmurs are similar, bu t no change with posture). Catheter \201 ndings Pulmonary stenosis RV pressure \200\200; pulmonary artery pressure \200\201. If peak systolic gradient \200\20525mmHg at 6 months old, it \200\231s likely to be benign291 As above wit h right atrial pressure \200\200 and PaO2 \200\201 RV pressure \200\200; RV O2 >R atrial O2 Right atrial pressure & oxygenation \200\200 compared with IVC RV pressure \200\200; pulmo nary artery O2 >RV O2 See p642 OHCM p151; LV O2 \200\201, RV O2 \200\201292 & PaO2 \200\201 + foramen ovale VSD ASD Patent ductus Fallot \200\231s tetrad Orofacial clefts (cleft lip and palate) This is the chief facial malformation. It results f rom failure of fusion of maxillary and premaxillary processes (during week 5). The defect r uns from lip to nostril. It may be bilateral, when there is often a cleft in the palate as well, with the pre- maxillary process displaced anteriorly. Palate clefts may be large or s mall (eg of uvula alone). Incidence: 2 : 1000. \200 : \200 > 1 : 1 Causes: Genes, benz odiazepines, antiepileptics, rubella. Other malformations are common, eg trisomy 18, 13 \200\22315, or Pierre Robin short mandible (causing cyanotic attacks). Prevention: Quit smo k- ing pre-pregnancy.293 Folic acid \211 6mg/day periconception multivitamins.294,295 A voidance of anti-epileptics. Interdisciplinary treatment: Orthodontist, plas- tic surgeon, oral surgeon, GP, pediatrician, speech therapist. Feeding with spe- cial teats may be neede d before plastic surgery (usually, lip repair at 3 months, and palate at 1yr; some surgeons do lip at 1 week old). Repair of unilateral com- plete or incomplete lesions often gives g ood cosmesis. Refer to expert centers. If bilateral, there is always some residual deformit y. Surgery may involve iliac bone grafts + insertion of Gore-Tex membranes.296 Complicati ons: Otitis me- dia, aspiration, post-op palatal \201 stulae, poor speech (speech therapy helps). So- cial adjustment \200\201.297 Avoid taking to NICU \200\224may \200\201bonding \200\224a big problem (also the dopaminergic \200\230high \200\231 a normal baby \200\231 s smile induces in the mother \200\231s putamen may be subverted by the defect).298 138 \200 s c i r t a d e a P i Other head & neck malformations Eyes Anophthalmos: there are no eyes; rare; part of trisomy 13 \200\22315. Ectopia lentis: Presents as glaucoma with poor vision. The lens margin is v is- ible; seen in Marfan \200\231s (OHCM p720), Ehlers \200\223Danlos (p642), homocystinuri a; in- cidence: <1 : 5000; autosomal-dominant (a-Dom) or recessive (a-R). Cataract: Rubella , Down \200\231s, others: recessive or sex-linked. Coloboma: Notched iris with a displaced pupil; incidence: 2 : 10,000; (a-R). Microphthalmos: Small eyes; 1 : 1000; due to rubella \200\224or genetic (a-Dom). Ears Accessory auricles: seen in front of the ear; incidence: 1 5 : 1000. Deformed ears: Treacher \200\223Collins \200\231 syndrome (p655). Low-set ears: a ssociations \200\224Down \200\231s syndrome; congenital heart disease. Nose/throat Choanal atresia: Signs: postnatal cyanotic attacks; nasal cath- eter doesn \200\231t go into the ph arynx because of nasal malformation. Incidence: \211 1 : 5000. Surgery: consider a micro-e ndoscopic nasal approach. 299 Congenital laryngeal stridor: ( \200\223 laryngeal webs or la ryngomalacia: the larynx is unable to stay open. Signs: shrill inspirations; dyspnoea. Surg ery: endoscopic. Laryngeal atresia: Breaths don \200\231t expand the lungs, which are hypop lastic. Look for coexisting anomalies. 300 Branchial \201 stula: These open at the front of sternomastoid (a remnant of the 2nd or 3rd branchial pouch). Incidence: <1 : 5000. Branc hial and thyroglossal cysts: p576. Skull & spine Brachycephaly: Short, broad skull from ear ly closure (cranio- stenosis) of the coronal suture; incidence: <1 : 1000; Down \200\231s-a ssociated or a- Dom. Cleidocranial dysostosis: No clavicles (so shoulders meet). Slow skull ossi \201 cation, no sinuses, high-arched palate; incidence <1 : 5000; a-Dom. Craniofacia l dysostosis: Tower skull, beaked nose, exophthalmos. \200 : spiral CT. Klippel \200\223Fe il syndrome (p648): fused cervical vertebra (so the neck is short). CNS Hydrocephalus: inci dence 0.3 \200\2232 : 1000. Ante- or neo-neonatal injury, in- fection, or genes (sex-linked ) may cause aqueduct stenosis. Dandy \200\223Walker syndrome (p640); Arnold \200\223Chiari malformation (OHCM p708). Microcephaly: Causes: genetic, 301 intrauterine viruses (eg rubel la), hypoxia, X-rays, maternal alcohol. Incidence: 1 : 1000. Recurrence risk: 1 : 50. Fetal alcohol syndrome Severity depends on how much alcohol the mother has had in pregnancy. Fea tures: microcephaly, short palpebral \201 ssure, hypo- plastic upper lip, absent philtrum , small eyes, IQ \200\201, cardiac malformations. Spina bi \201 da: p140 139 Head and neck words To outsiders, it seems as if pediatricians are obsessed with measuring head circumference and head shape, and translating the latter into Latin \200\224as if de \201 ng the outside could explain what what is going on inside. To insiders, though, \200 \207it is to diagnose and treat craniostenois that we we measure heads. So always know w here your patient is on his or her centile charts. Craniostenosis=craniosynostosis=prematur e closure of one or more of the skull \200\231s \201 brous sutures by ossi \201 cation. It aff ects 1 : 2000 of whom 2 \200\22311% have a family history. 15 \200\22340% have one of 180 recognized syndromes (with a fam- ily history it \200\231s 50%). Normal time for sut ures to close is 3 \200\2239 months for the metopic (frontal) suture, 29 \200\22339yrs for other sutures (saggital, coronal, lam- boid). The skull compensates for closure by growing in the direction parallel to the closed suture. If the compensatory growth allows insuffi c ient space for the growing brain there will be \200\200ICP visual loss, sleep impairmen t (ob- structive sleep apnoea), eating problems and \200\201 IQ. Babies with insuffi cient head growth (centile charts p222 \200\2234) or skull deformity need assessment by a cranio facial surgeon. 4 \200\22320% of children with single suture closure have raised intracrani al pressure, up to 60% if more than one suture involved. Look for papilloedema. Skull X-ray : single closed suture. CT: structural brain abnormalities and suture fusion and will diagn ose deformational plagio- cephaly (due to absent suture) and pansynostosis secondary to mic ephaly. Subarachnoid spaces are larger in microcephaly. Surgery at 6 \200\22312 months aims to normalize the cranial vault and to allow for brain growth. Cyclopia: A single eye in th e area normally occupied by the root of the nose, which is missing, or present in the form of a proboscis (a tubular append- age) located above the eye. In some, it can be viewed as an extreme form of hypotelorism. It may be part of trisomy 13 (Patau \200\231s syndrome). D olicephalic: The head is elongated, eg as in Marfan \200\231s, or El Greco portraits. Dysto pia canthorum: Intercanthal distance is increased, but not the inter- pupillary or (bony) i nterorbital distances. Holoprosencephaly: (a whole, ie single-sphered, brain) Hypotelorism with cleft palate premaxillary agenesis cyclopia cebocephaly (see above) \200\224 follows failure of the lateral ventricles to separate (defective cleavage of the prosenceph alon), eg with fusion of the basal ganglia. Lissencephaly: Smooth cortex with no convolutio ns (agyria). Metopic suture: This is the same as the frontal suture. Micrognathia: The mand ible is too small. Neurocranium: That part of the skull holding the brain. Oxycephalic (=tu rricephaly=acro-cephaly) The top of the head is pointed. Plagiocephaly: If fully expressed, synos- tosis aff ects coronal (rarely lambdoidal) sutures ( palpable bony ridge) with a \202 at forehead and elevation of the orbit on one side. Minor (unfused) plagiocephalic as ymmetry is common in infants sleeping on their backs, improves with time, and is of no sign i \201 cance. Associations: scoliosis and pelvic obliquity ( \201 g 1). Rachischisis: Spi nal column \201 ssure. Sinciput: Anterior, upper part of head. Viscerocranium: Facial ske leton. Wormian bones: Supernumerary bones in the sutures of the skull. s c i r t a i d e a P Fig 1. Plagiocephaly. Neural tube defects (NTDS) Neural tube defects result from failure of the neural tube to cl ose between the 3rd and 4th week of in utero development. Myelodysplasia: Any neuroectoderm defect, eg of the cord, either multiple anterior horns, several central canals, failure of cord fusion so that there is a \202 at neural plaque, not a fused tube (myelocele), or a double neural tube (diplomyelia), or herniation through a bony defect as a meningocele (co nt- ains dura & arachnoid) or meningomyelocele (the cord is involved too, \201 g 1). Spin a bi \201 da implies an incomplete vertebral arch (spina bi \201 da occulta if covered by skin). Anencephaly implies absent skull vault and cerebral cortex. Encephalocele means tha t part of the brain protrudes through the skull. Incidence in Europe 4000 preventable NTDs /yr. 311 Risk increases with young primips, lower social class, and homozygosity for a poin t mutation (C677 \200\203T; prevalence \211\21010%, interfering with folate metabolism). R ecurrence risk rises 10-fold if one pregnancy is aff ected, 20-fold if 2, 40-fold if 3 preg nancies af- fected; and 30-fold if a parent is aff ected. See below for risk reduction. Neu rological de \201 cit is variable, depending on level of the lesion and the degree to whic h the lower cord functions independently from the upper cord. The de- fect may progress aft er birth; hydrocephalus gradually worsens mental perfor- mance. A child who learns to walk during his 2nd year may subsequently outgrow his ability to support (weight increases as th e cube of surface area, power only as its square). Those with lumbosacral myelomeningoceles usually learn to walk with calipers by the age of 3, but \211 20% with higher lesions eve r walk. When there is paralysis below L3, as unopposed hip \202 exors and adductors are l ikely to dislocate the hips; only 5 \200\22313% retain their ability to walk. 312n=173 Post natal surgery Firm guidelines on whom to treat often prove simplistic in individual infants . The \201 nal outcome of early closure of the defect depends on the state of the kidneys after multiple UTIs, and the extent of delayed hy- drocephalus (requiring ventriculoperito neal CSF shunts). Early post-operative mortality may account for 25% of deaths. Many opera tions may be needed for spinal deformity (often severe and very hard to treat). Intrauterin e diagnosis A maternal serum \200 -fetoprotein >90U/mL at 18 weeks detects 80% of open sp ina bi \201 das and 90% of anencephalics, but also 3% of normal singleton fetuses, twins, and some with exomphalos, congenital ne- phrosis, urethral valves, Turner \200\231s syndrom e, trisomy 13, and oligohydramnios. Amniocentesis and skilled ultrasound \200\200pick-up r ates further. Intrauterine surgery (eg at 23 weeks \200\231 gestation) This is very controv ersial. Hurdles for the developing child \200 Urinary and fecal incontinence. Penile appl iances, urinary diversions, or in- termittent self-catheterization save laundry and bed sor es. Regular evalua- tion of bladder function is essential (surgery may or may not help).1 140 s c i r t a d e a P i