Drug therapy, physical therapy, bracing for support, surgery, and massage are all current treatments for a variety of myopathies. References
External links
GeneReviews/NCBI/NIH/UW entry on Myopathy with Deficiency of ISCU
See http://neuromuscular.wustl.edu/ for medical descriptions.
Pituitary stalk interruption syndrome (PSIS) is a congenital disorder characterised by the triad of an absent or exceedingly thin pituitary stalk, an ectopic or absent posterior pituitary and/or absent or hypoplastic anterior pituitary. Presentation
Affected individuals may present with hypoglycaemia during the neonatal period, or with growth retardation during childhood (those diagnosed in the neonatal period appear to be affected by a particularly severe form of the disorder). PSIS is a common cause of congenital hypopituitarism, and causes a permanent growth hormone deficit. Some PSIS-affected individuals may also present with adrenal hypoplasia (5-29%), diabetes insipidus (5-29%), primary amenorrhea (5-29%), hypothyroidism (30-79%), failure to thrive (80-99%), septooptic dysplasia (5-29%), and Fanconi anaemia. PSIS may be isolated, or, commonly, present with extra-pituitary malformations.PSIS features in neonates (may) include:
hypoglycaemia (30-79%)
(prolonged) jaundice
micropenis (30-79%)
cryptorchidism (5-29%)
delayed intellectual development
death in infancy (5-29%)
congenital abnormalitiesPSIS features in later childhood (may) include:
short stature (80-99%)
seizures (5-29%)
hypotension
delayed intellectual development
delayed puberty (30-79%)PSIS is associated with a higher frequency of breech presentation, Caeserian section, and/or low Apgar score, though these are likely consequences rather than causes. Cause
The cause of the condition is as of yet unknown. Rare genetic mutations may cause familial cases, however, these account for less than 5% of cases. Diagnosis
The diagnosis is confirmed through MRI. Management
Treatment should commence as soon as a diagnosis is established to avoid complications, and consists of hormone replacement, particularly with growth hormone. Prognosis
Prognosis is generally good in cases of prompt diagnosis and management.