Clinical Quiz 6
S. De Rechter, D. Mekahli, N. Knops
Department of Pediatric Nephrology, University Hospitals Leuven, Leuven, Belgium
A 12 year old girl presented at the outpatient clinic because of low stature. She was born at post-menstruational age of 37wks and had intra-uterine growth retardation of unknown origin (birth weight 1480 gr). During neonatal period and infancy, there were no problems and a catch-up growth towards -1 SDS height for age. Over the last 5-6 years, she developed a gradually deflective growth curve without an apparent cause. Two years ago, she experienced two episodes of focal epilepsia. MRI of the brain and EEG could not withhold any abnormalities. On this moment, she complains of bilateral hip pain.
Familial history is unremarkable, parents are non-consanguinous.
Physical exam reveals a girl in a good general clinical condition with a normal intellectual capacity. She has a dysproportionally small stature (short thorax; long arms; short neck) with a mild kyphosis but no other apparent dysmorphic features. No neurological abnormalities. Dentinogenesis imperfecta. Normal cardiac, pulmonary and abdominal examination. No edema.
Weight was 32.9 kg (SDS -1.7), height 137.7 cm (SDS -2.6), BP 157/87 mm/hg. Laboratory results showed Hb 12.1 g/dl, WBC 3.97 x 10*9/l (normal range: 4.5 -13), lymphocytes: 0.9 10*9/l (normal range: 1-5.3): thrombocytes 443.000 10*6/l thrombocytes, potassium 5.13 mmol/l, bicarbonate 18.2 mmol/l, calcium 2.14 mmol/l, creatinine 3.76 mg/dl, ureum 94 mg/dl, albumin 33 gr/l and hypercholesterolemia.
Urine test showed proteinuria (5.5 gr/gr creat). No hematuria or pyuria. Culture negative.
Rx skeletal survey showed hip dysplasia.
Abdominal Ultrasound (US) showed bilateral renal dysplasia (small, hyperechogenic kidneys).