27 April 1998
(Apparent patient location: China)
Twin A is a 10-month-old girl admitted to a hospital on February 12,1998
for an intermittent fever and cough for 20 days, watery diarrhea for one
week, and an increasing anterior frontanelle. She had poor appetite,loss
of body weight,
untranquil sleep and hyperhidrosis. Vomiting and convulsions were not
observed.
She can't crawl or turn over her body. She had no history of
familial diseases. On physical examination her temperature was36.5deg.C,
body weight was 7kg, development was slow, her head circumference was 44cm,
anterior frontanelle was3x3cm2 with its tension slightly higher, no occipital
atrichia and varicose scalp were found. She was found to have slight nasal
obstruction and congestion of throat with her palate arch slightly higher
and normal size of tonsil. No abnormality was found in her heart or abdomen
except slight respiratory harshness in her two lungs and liver edge was
palpable 3cm below the right costal margin and the spleen was palpable
1cm below left costal margin.No abnormality was found in her nervous system
except hypomyotonia in her lower extremities. By MR she had slight enlargement
of the lateral and 3rd ventricles and a dysplastic, polycystic left kidney.The
right kidney was normal by MR but enlarged by ultrasound. Increased density
was found in femora, tibiae, fibula, calcaneus, and carpal bone with pachynsis
of their cortices and occlusion of their marrow cavities as well as increased
pachynsis and hardness of their cranial bones such as middle sphenoid bone
wing,sella base,dorsum sellae and both anterior and posterior clinoid processes.These
findings brought it into accord with the manifestations of osteopetrosis.
Twin A was tentatively diagnosed as:
1. Osteopetrosis(hydrocrania,moderate anemia,slightly slow brain development,slow
growth development)
2. Dysplasia of left kidney,renal cyst.
3. Upper respiratory tract infection.
4. Rachitis.
Twin B has a similar clinical presentation.
We would appreciate advice or assistance treating these patients. They are financially able to travel abroad for therapy.