Early psychomotor deterioration: decreased activity and lethargy in the first weeks; never sit; feeding problems - failure to thrive; visual failure (nystagmus noted) by 6 months; initial hypotonia; later spasticity with pyramidal signs; secondary microcephaly develops; decerebrate rigidity by 1 year and death by age 1–2 years (due to pneumonia and respiratory failure); some have hyperacusis. Macular cherry-red spots in 50% by 6–10 months; corneal opacities in some
Facial dysmorphology: frontal bossing, wide nasal bridge, facial edema (puffy eyelids); peripheral edema, epicanthus, long upper lip, microretrognathia, gingival hypertrophy (thick alveolar ridges), macroglossia
Hepatomegaly by 6 months and splenomegaly later; some have cardiac failure
Skeletal deformities: flexion contractures noted by 3 months; early subperiosteal bone formation (may be present at birth); diaphyseal widening later; demineralization; thoracolumbar vertebral hypoplasia and beaking at age 3–6 months; kyphoscoliosis. *Dysostosis multiplex (as in the mucopolysaccharidoses)
10–80% of peripheral lymphocytes are vacuolated; foamy histiocytes in bone marrow; visceral mucopolysaccharide storage similar to that in Hurler disease; GM1 storage in cerebral gray matter is 10-fold elevated (20–50-fold increased in viscera)
Galactose-containing oligosacchariduria and moderate keratan sulfaturia
Morquio disease Type B: Mutations with higher residual beta-galactosidase activity for the GM1 substrate than for keratan sulfate and other galactose-containing oligosaccharides have minimal neurologic involvement but severe dysostosis resembling Morquio disease type A (Mucopolysaccharidosis type 4). Late infantile/Juvenile GM1
Onset of late infantile GM1 is typically between ages 1 and 3 years. The juvenile form may be diagnosed into childhood. Some children live into adolescence or early adulthood.
A SBO may be caused when an adhesion pulls or kinks the small intestine and prevents the flow of content through the digestive tract. Obstruction may occur 20 years or more after the initial surgical procedure, if a previously benign adhesion allows the small bowel to twist spontaneously around itself and obstruct. Without immediate medical attention, SBO is an emergent, possibly fatal, condition. According to statistics provided by the National Hospital Discharge Survey approximately 2,000 people die every year in the US from obstruction due to adhesions. Depending on the severity of the obstruction, a partial obstruction may relieve itself with conservative medical intervention. Many obstructive events require surgery, however, to loosen or dissolve the offending adhesion(s) or to resect the affected small intestine. Pelvic adhesions
Pelvic adhesions are a form of abdominal adhesions in the pelvis. In women they typically affect reproductive organs and thus are of concern in reproduction or as a cause of chronic pelvic pain. Other than surgery, endometriosis and pelvic inflammatory disease are typical causes. Surgery inside the uterine cavity (e.g., suction dilation and curettage, myomectomy, endometrial ablation) may result in Ashermans syndrome (also known as intrauterine adhesions, intra uterine synechiae), a cause of infertility. The impairment of reproductive performance from adhesions may happen through many mechanisms, all of which usually stem from the distortion of the normal tubo-ovarian relationship.