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Published on: October 21, 2014
[Krabbe s disease - case report]
L D Noronha1, G Sampaio, I Bruck
1Universidade Federal do Paraná (UFPR), Curitiba, PR, Brazil.
Abstract:
OBJECTIVE: Report a case of Krabbés disease with necropsy. METHODS: Review of medical and necropsy records. RESULTS: An 8 months-old male patient developed tremors, swallowing difficulty and excessive salivation for 4 months prior to admission, evolving with vomiting and fever. Physical examination showed microcephaly and diffuse pigmentation of the retinae. Neurological examination showed flexion of upper limbs with spastic hyperthony, symmetrical global hyperreflexia, nystagmus and spontaneous spasms. EEG showed multifocal irritative activity. There was increase in both CSF protein and gamaglobulin. The patient evolved with transitory hyperthermia, vomiting and pneumopathy, dying on the 23rd day after admission. Post mortem studies revealed microcephaly with widening of brain sulci. Histological examination revealed several globoid cells in the deep portion of the white matter, reactive gliosis and demyelination. CONCLUSIONS: These findings were similar to those in the world literature, indicating a poor prognosis due to substantial brain damage.
Insights
This case report details Krabbé disease in an infant, identified through clinical signs and necropsy. The findings highlight severe brain damage and a poor prognosis, consistent with global literature on this rare genetic disorder.
Area of Science:
- Pediatric Neurology
- Medical Genetics
- Pathology
Background:
- Krabbé disease is a rare, fatal genetic disorder affecting the nervous system.
- Early diagnosis and understanding of its pathological features are crucial for management and research.
Purpose of the Study:
- To present a case of Krabbé disease diagnosed via clinical presentation and necropsy.
- To correlate pathological findings with clinical manifestations.
Main Methods:
- Review of medical and necropsy records of an infant diagnosed with Krabbé disease.
- Clinical assessment including neurological examination, EEG, and CSF analysis.
- Histopathological examination of brain tissue post-mortem.
Main Results:
- The patient presented with neurological symptoms including tremors, swallowing difficulties, and spasticity.
- Physical examination revealed microcephaly and retinal pigmentation.
- Necropsy confirmed Krabbé disease with globoid cells, gliosis, and demyelination in the white matter.
Conclusions:
- The case findings align with established literature on Krabbé disease.
- Substantial brain damage indicates a poor prognosis.
- Necropsy is vital for confirming diagnosis and understanding disease pathology.
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