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Case report

The patient was a 4.5 years old boy. He was born at term by cesarean section. Birth weight was 2.4 Kg. He is second child of consanguineous parents. He had ASD that improved spontaneously. Diabetes was diagnosed at 2 months of age when he presented with poor feeding and dehydration. He was on treatment with insulin(NPH, regular). At 11 month of age the patient was admitted with the complain of the vomiting and distention of abdomen and generalized edema. Clinically, he had hepatomegaly.

Laboratory test has been listed in following table

Ultrasonography was reported hepatomegaly, mild pericholecystic edema, normal spleen and enlarged and hyperechoic  Kidneys. Doppler sonography of hepatic vessels and portal system was normal.

The clinical signs were improved spontaneously and SGOT and SGPT reduced to normal range. He treated with levothyroxin sodium with diagnosis  of subclinical hypothyroidism (T4:7.9 µ g/dl, TSH:7.35 µiu/L, Cortisol:276µg/L) since one year ago.

At about 3 year of age, he affected by difficulty in walking. Bone survey  reported small and irregular epiphysis compatible with multiple epiphyseal dysplasia.

In family history he was second child of non consanguine parents. First child was a girl who died in 5 year of age. She had diabetes since 40 day of age. She had frequent additions because of vomiting , abdominal pain and distention, acholic stool and generalized edema. She had hepatomegaly and ascitis. Laboratory test was shown abnormal liver function test (SGPT:11275 IU/L, SGOT: 4500 IU/L, Total bilirubin: 3 mg/dl, Direct bilirubin :1.9, ALP: 1720 IU/L, viral hepatitis markers were negative).Recurrent episode of hepatitis occurs often during viral upper respiratory infections . abnormal walking began at 3 year of age. She died with hepatitis and renal failure.

We visited the child for first time at 4.5 year of age . On physical examination, his weight was 13 Kg ( - 2.3 SD) and his height was  93 CM(  -2.8  SD). He had abnormal gait and skeletal disproportion.He had no organomegaly and other abnormal findings.

The last laboratory test listed in following table

Bonesurvey revealed spondyloepiphyseal dysplasia.

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