PMC8101675_01
Our patient with hypotonia and facial dysmorphism
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F1
This is a 9-year-old boy [Figure 1], first offspring to 4th degree consanguineous marriage, born via preterm lower-segment caesarean section at 8 months of gestation in view of oligohydramnios and preterm premature rupture of membrane, with an uneventful antenatal period, and his birth weight was 2.2 kg.
Molar tooth sign in brain MRI
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F2
In view of neurological abnormalities, MRI of the brain was taken, which showed vermian aplasia with characteristic molar tooth sign [Figure 2].
Post-mortem renal biopsy shows tubular atrophy with focal thyroidisation and severe interstitial fibrosis
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F3
After taking consent from patient's father we performed a postmortem renal biopsy which showed 31 glomeruli, out of which 15 were sclerosed, viable glomeruli showed periglomerular fibrosis, interstitium was markedly fibrosed with scattered infiltrate of lymphocytes and plasma cells, and tubules were atrophic with focal thyroidisation and thickened basement membrane [Figure 3 and 4].
Tubular atrophy with thyroidisation
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F4
After taking consent from patient's father we performed a postmortem renal biopsy which showed 31 glomeruli, out of which 15 were sclerosed, viable glomeruli showed periglomerular fibrosis, interstitium was markedly fibrosed with scattered infiltrate of lymphocytes and plasma cells, and tubules were atrophic with focal thyroidisation and thickened basement membrane [Figure 3 and 4].