An Autopsy Case of Gargoylism, with Special Reference to the Histochemistry of Cytoplasmic Infiltrates

Abstract

CLINICAL DATAA girl aged 4 years and 7 months was admitted to the Niigata University Hospital on Jan. 13, 1956. Her 2 sibs died of dyspepsia in early infancy and otherwise her family history was noncontributory. The delivery was uneventful, the body weighing 4125 g. at that time. The beginning of sitting up and walking was timely. Thereafter her physical and mental development was gradually retarded, and she could not speak even at the age of 4 years. In the meanwhile, lumbal kyphosis of the spine was noticed. She was diagnosed as rickets by a certain doctor, and in spite of gips application the deformity was not improved.On admission she was 87.5 cm. (normal : 96.7) in height and 14 kg. (normal : 16.5) in weight. The intelligence was not so high as that of a one-year-child (idocy). The skull was slightly box-like, measuring 48 cm. (normal: 48.6) in circumference. The face was grotesque ; the malar bones prominent, the eyes set apart, and the mouth opened with enlarged lips and tongue. Opacities of the cornea and hypertrichiosis of the head and trunk were also present. The neck was short. The breast had a funnel shape deformity but no rosary. The heart was enlarged to the left. The lungs showed nothing abnormal. The abdomen was protuberant with umbilical hernia. The liver and the spleen were palpable 3 and 1 finger breadths respectively below the costal margin. The extremities were short and thick and limited in their motilities to some extent. The clawhand was present bilaterally. The rontgenogram revealed a spatulalike appearance of the ribs and a beak-like deformity of the 1st. and 2nd. lumbal vertebrae. The sella turcica was elongated but flat. The tuberculin test and the serum Wassermann negative. The blood study disclosed 4.05 million red cells, 86% hemoglobin, and 6,600 white cells. Reilly's granulations were absent in leukocytes. The urine examination showed nothing abnormal. The serum examination disclosed that total protein was 6.11 g./dl., calcium 9.5 mg./dl. and phosphorus 3.8 mg./dl. As a result of the liver function tests, T.T.T. was 6.7 M. u., C.C.F. (it), Gros (ti.), and cholin-esterase A p H 1.02. The splinal fluid was clear and colorless, containing 6 lymphocytes per cmm. ; the pressure was 500mm. water. Nonne (-). Pandy (-). C1 463, NaCl 763, and glucose 86 mg./dl. Her parents were cousins and had 7 children. Directed by T. ITO and S. FUJIMAKI (Prof. of Pathology).

An Autopsy Case of Niemann‐pick Disease

“…/dl, K 5.5mEq/dl, Cholesterol 320 mg%, Lipid protein 14.8, Oleinic acid 37.8, Paramitio acid 28.4, Triglyceride 32 4. …”