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Infantile familial encephalopathy with cerebral calcifications and leukodystrophy
F Razavi-Encha1, J C Larroche, D Gaillard
1Département d'Histologie-Embryologie, CHU Henri Mondor, Créteil, France.
Insights
This study reports four infants with congenital neurological disorders, cerebral calcifications, and leukodystrophy. These cases may represent a distinct genetic disorder, possibly with autosomal recessive inheritance.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Congenital neurological disorders and cerebral calcifications present diagnostic challenges.
- Leukodystrophy affects white matter, impacting neurological development.
- Idiopathic cerebral calcifications require further etiological investigation.
Purpose of the Study:
- To describe a series of infants with congenital neurological disorders, cerebral calcifications, and leukodystrophy.
- To investigate the potential for a novel genetic entity within idiopathic non-arteriosclerotic cerebral calcifications.
Main Methods:
- Case report of two families with affected siblings.
- Diagnostic imaging including skull X-rays and ultrasound.
- Neuropathological examination with glial fibrillary acidic protein (GFAP) immunohistochemistry and electron microscopy.
Main Results:
- Two families presented with siblings affected by congenital and progressive neurological disorders.
- Cerebral calcifications were identified via X-ray and ultrasound, predominantly in basal ganglia and periventricular white matter.
- Neuropathology confirmed calcifications, severe white matter abnormalities, and astrogliosis with increased glial filaments.
Conclusions:
- The reported cases exhibit a distinct pattern of congenital neurological disorder, cerebral calcifications, and leukodystrophy.
- This presentation may represent a separate entity among idiopathic non-arteriosclerotic cerebral calcifications.
- Autosomal recessive inheritance is suggested as a possible mode of transmission.
Abstract:
Two sets of siblings, in two different families, presenting with congenital and progressive neurological disorders, cerebral calcifications and leukodystrophy are reported. In the first family, the diagnosis of brain calcifications in two infants was based on skull X-rays; in the second family, ultrasound scans showed hyperechoic areas in the basal ganglia and periventricular white matter in both infants. Neuropathological studies confirmed the calcifications and revealed severe abnormalities of the white matter with GFAP positive gliosis. Electron micrographs showed large astrocytes with an increased amount of glial filaments. In the group of idiopathic non arteriosclerotic cerebral calcifications, these four cases may represent a separate entity with possible autosomal recessive inheritance.