[Late infantile GM1 gangliosidosis with progressive dilatation of common bile duct and obstructive apnea--an autopsy case].
We report a 5-year-old autopsy case of late infantile type of GM1 gangliosidosis,which developed rare respiratory and intestinal complications. Obstructive apnea by adenoidal hypertrophy was improved by adenoidectomy, but the right bronchus was compressed by hilar lymph node swellings. The lymph nodes could not be treated surgically because of her poor general condition. There was hyperplasia showing foamy histiocyte including mucopolysaccharide which demonstrated a vacuolar formation containing irregular arranged fibrillar material on electron microscopy. Cerebral atrophy progressed gradually, and epileptic apnea developed, which was intractable to all antiepileptic drugs administered. Glycolipid accumulation, showing membranous cytoplasmic body on electron microscopy, seemed to lead to neurodegeneration. Abdominal distension due to hepatosplenomegaly, common bile duct dilatation compressed by lymph node swelling of the caput pancreatis part, and enteroparalysis was uncontrolled. These findings suggest that severe glycolipid deposition in lymphoreticular organs can induce various complications in patients with late infantile type of GM1 gangliosidosis.
Kuki
Ichiro
I
Department of Pediatric Neurology, Osaka City General Hospital, Osaka. gpkichiro@kcd.biglobe.ne.jp
Tomiwa
Kiyotaka
K
Okazaki
Shin
S
Ikeda
Hiroko
H
Kawawaki
Hisashi
H
D000233:Adenoidectomy; D000234:Adenoids / Q000473:pathology; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D003135:Common Bile Duct / Q000473:pathology*; D004108:Dilatation, Pathologic / Q000150:complications; D005260:Female; D016537:Gangliosidosis, GM1 / Q000150:complications* / Q000473:pathology*; D006801:Humans; D006984:Hypertrophy; D008279:Magnetic Resonance Imaging; D020181:Sleep Apnea, Obstructive / Q000150:complications*