A child with nail-patella syndrome including nephropathy, autism, and epilepsy

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Nail-Patella syndrome is characterized by dysplasia or absence of nailbeds and patellae, abnormalities of the elbow such as subluxation of the radial head, hornlike overgrowths of the iliac bones, and in some cases, nephropathy. We describe a 3-year-old boy with nail-patella syndrome (NPS) complicated with nephropathy who also had autism and epilepsy. (Patient) He showed signs of autism in a developmental checkup at 1.5 years ; at 2 years, he had his first seizure. The patient's mother had NPS with nephropathy. Proteinuria and hematuria were detected in the boy at 2 years during annual screening. He showed moderate proteinuria, while renal function remained normal. A renal biopsy specimen showed a mild mesangial increase and focal thickening of the glomerular basement membrane (GBM), without immuno-fluorescence for immunoglobulins or complement components. Ultrastructural examination revealed the characteristics of NPS nephropathy : a slightly thickened GBM with an electron-lucent area ("moth eaten" appearance), and accumulation of coarsely banded collagenous materials. Steroid therapy failed to decrease proteinuria. Nail dysplasia with a triangular lunula was evident mainly in the thumbs, while the patella showed ossification delay. Whether or not the patient's neuropsychiatric disorders are related to NPS remains uncertain. Continued follow-up of nephropathy as well as management of neuropsychiatric manifestations may be required for preventing progression of these complications.
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A child with nail-patella syndrome including nephropathy, autism, and epilepsy

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