Erdheim-Chester disease (ECD) is a rare multiple system histiocytosis that is characterized pathologically by xanthogranulomatous infiltrates and radiologically by symmetrical sclerosis of long bones. The diagnosis is often confirmed by biopsy of bone or of orbital or retroperitoneal soft tissue. Intracranial involvement is rare. The authors report a case of ECD in which the diagnosis was made after biopsy of a hypothalamic mass. The mass had been discovered during a workup for panhypopituitarism in a 55-year-old man with urological and bone disease. Aside from diabetes insipidus, other features of pituitary insufficiency have seldom been reported and no patients have presented with a hypothalamic tumor. The endocrinological and neurological aspects of ECD are discussed, as is its differential diagnosis. Reported cases of the disorder associated with hypopituitarism or found during biopsy of central nervous system structures are also reviewed.
A six-week-old male infant was admitted for investigation of cholestasis and pale stools. He became lethargic and apnoeic with prolonged seizures after a percutaneous liver biopsy. Subsequent investigations showed conjugated hyperbilirubinaemia, elevated liver enzymes, and hypoglycaemia. The radinuclide hepatobiliary scintigraphy was non-excretory. After an operative cholangiogram, the infant developed Addisonian-like crisis with bradycardia, hypotension, respiratory distress, metabolic acidosis, hypoglycaemia, hyponatraemia, and hyperkalaemia. Blood investigations confirmed congenital hypopituitarism. Hormone replacement therapy with L-thyroxine and cortisone acetate resulted in dissolution of jaundice and the reduction of the liver size.
Micropenis is an important sign in congenital hypopituitarism and various disorders. Documented norms for penile length exist only for babies of Caucasian and Middle-Eastern origin. This study was carried out to establish such norms for Asian newborns. We studied 228 male live births within their first three days of life. Stretched penile lengths were marked off on unmarked wooden spatulas, which were placed vertically along the dorsal aspect of the penis, with one rounded end on the pubic bone. The mean penile length +/- S.D. for the full-term Asian baby was 3.6 +/- 0.4 cm. Race had a significant effect: Chinese 3.5 cm, Malay 3.6 cm and Indian 3.8 cm. Penile length correlated with birth weight and gestational age. Asian babies thus have similar norms to Caucasian babies. An Asian newborn whose penis measures less than 2.6 cm has micropenis and may need prompt investigation for underlying endocrine disorders.