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[An autopsy case of Fahr disease (infantile form)]
K Matsui1, M Yamada, T Kobayashi
1Division of Pediatric Neurology, Kanagawa Children's Medical Center, Yokohama.
Insights
This case report details a rare infantile form of Fahr disease in a young girl, characterized by severe neurological deficits and extensive brain calcifications. The findings highlight the condition
Area of Science:
- Neuroscience and Genetics
- Pediatric Neurology
- Rare Diseases
Background:
- Fahr disease, characterized by idiopathic basal ganglia calcification (IBGC), is a rare neurological disorder.
- The infantile form of Fahr disease presents with severe early-onset symptoms and distinct pathological findings.
- Understanding the etiology and progression of infantile Fahr disease is crucial for diagnosis and management.
Observation:
- A 13-year-old girl with Fahr disease (infantile form) presented with infantile spasms, microcephaly, and blindness.
- Cranial CT revealed extensive calcifications in the basal ganglia, periventricular white matter, and cerebellum.
- Microscopic examination showed perivascular ferro-calcinosis limited to the central nervous system above the midbrain.
Findings:
- The patient exhibited a suppression-burst pattern on EEG and died at 13 years old due to pneumonia and hyperammonemia.
- Pathological findings included non-arteriosclerotic ferro-calcinosis, with periventricular granules of varying sizes.
- Reduced ornithine transcarbamylase activity was noted in the liver but likely unrelated to the cerebral calcifications.
Implications:
- This case underscores the rarity and potential heterogeneity of infantile Fahr disease.
- The clinical and pathological features align with previous reports of childhood Fahr disease.
- Fahr disease should be considered in the differential diagnosis of disorders causing infantile spasms.
Abstract:
A 13-year-old girl with Fahr disease (infantile form) was reported. Her parents were consanguineous. Her elder sister had mental retardation and spasticity of the lower limbs, and died at 23 years of age. The patient suffered from infantile spasms at 3 month. She was bed-ridden, nonverbal, microcephalic and blind. Cranial CT revealed massive calcifications in the basal ganglia, periventricular white matter, dentate nucleus and cerebellar white matter. EEG showed a suppression-burst pattern. At 13 years, she died of pneumonia and hyperammonemia. Microscopic examination of brain showed perivascular non-arteriosclerotic ferro-calcinosis. The periventricular granules are 1-4 mu or 12 mu in diameter. This pathological change was observed only in the central nervous system above midbrain. No calcifications were found in the pituitary and the vessels of pia mater. Also a reduced ornithine transcarbamylase activity was found in the liver, which was probably not related with cerebral calcifications. Infantile form of Fahr disease is rare and may be heterogeneous in etiology. However, clinical manifestations and pathological findings were similar to those in previous reports of Fahr disease in childhood. It is one of the disorders causing infantile spasms.