BGDD

11

male

khulna

The patient was born with upper limb deformities. His skin gradually became paler until 4 years of age, but he had no other serious symptoms until the age of 7. The patient had developed intermittent fever and lethargy, and had a severely unhealthy, pale appearance. He had no deafness, and had no history of convulsion, melena or hematemesis. He had normal lower limbs and no hearing difficulties or cardiac murmur. Bony tenderness, jaundice, clubbing, cyanosis, edema, dehydration were not present. The patient did not have cafe au lait spots, cleft palate or capillary hemangioma. The patient had a small forearm. He had inward turned hands and had a bifid thub on his left hand. His liver, spleen, and lymph nodes were not palpable. Bone marrow examination revealed the patient had hypo cellular marrow, ultrasonography of his abdomen revealed he had no left kidney, X-ray showed that the radius and 1st metacarpal was absent in his right hand and forearm. His complete blood count (CBC) was Hb-4 gm./dI, erythrocyte sedimentation rate (ESR) was 65mm in the 1st hr, total white blood cell (WBC) count was 3500/cmm, Platelet <50,000/cmm, and his peripheral blood film (PBF) revealed pancytopenia. His serum creatinine level was at 0.9 mg/dI. His blood pressure was 90/60 mmHg, respiratory rate was 24/min and occipitofrontal circumference (OFC) was 45 cm (below 3rd centile). His height was 127.5 cm, weight 15 kg and BMI 9.22.

The patient was given blood transfusions and prescribed antibiotics for infection. The guardian could not afford haemoglobin electrophoresis or androgen therapy. Low doses of prednisolone was prescribed and the patient was advised for a follow up. The patient came for one follow-up but the case was lost as he did not come for subsequent follow-ups.

The patient was the second issue of consanguineous marriage and got admitted to Khulna Medical College Hospital on 06/09/2015. His sibling was completely normal. He was born by normal delivery at home with no birthing complications. He had blood transfusions twice.

2

male

dhaka

Patient had generalized weakness, recurrent fever and physical abnormalities. Patient was born with absent thumbs with flexor deformity of the wrists and had developmental and learning disabilities. He was short stature according to height for age (H/A), which was below the 19th percentile. He had microcephaly, triangular face, flat thenar eminence and hyperpigmentation with café au lait spots. His hemoglobin levels were at 7 gm/dL, Hct was 21.2%, platelet count was at <10x103/cumm and total WBC was at 6600/cumm. His liver and and renal function tests were typical and within normal range LDH 797 U/L. Bone marrow aspiration and marrow biopsy suggested aplastic anemia, showing hypocellularity. Chromosomal breakage study induced my Mitomycin C showed structural aberrations of most chromosomes. Ultrasonography of the abdomen revealed absent left kidney, absent right testis and undescended left testis. X-rays revealed both upper limbs have longitudinal pre-axial defects in addition to hypophalangism and radial club hand deformity.

This study specified no treatment.

He was born premature at seven months by LUCS due to fetal distress caused by oligohydramnios. The mother had no specific antenatal complaints. His only other sibling had died of Acute Lymphocytic Leukemia (ALL).