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Journals / Turkish Journal of Pediatrics / 2015 / Cilt: 57 - Sayı: 3

TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family

Hülya MARAŞ GENÇ
Emek UYUR-YALÇINR
Rasim Özgür ROSTİ
Joseph G. GLEESON
Bülent KARA
Pages
286–289
DOI
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AI Summary & Key Takeaways

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⚡ TL;DR(Too Long; Didn't Read)

Here we discuss the clinical and neuroradiological findings of PCH2, and its differentiation from familial startle disease or hereditary hyperekplexia

📌 3 Key Takeaways

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Objective & Hypothesis:The pontocerebellar hypoplasias (PCHs) are a heterogeneous group of autosomal recessive disorders characterized by hypoplasia of the ventral pons and cerebellum, with variable cerebral involvement and severe psychomotor retardation.
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Key Findings & Data:Eight different subtypes (PCH1-8) have been reported up to now.
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Conclusion & Impact:Here we discuss the clinical and neuroradiological findings of PCH2, and its differentiation from familial startle disease or hereditary hyperekplexia
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Özet

The pontocerebellar hypoplasias (PCHs) are a heterogeneous group of autosomal recessive disorders characterized by hypoplasia of the ventral pons and cerebellum, with variable cerebral involvement and severe psychomotor retardation. Eight different subtypes (PCH1-8) have been reported up to now. PCH2 is the most common type, generally caused by homozygous mutations in the TSEN54 gene and characterized by cerebellar hypoplasia that affects the hemispheres more severely than the vermis, progressive cerebral atrophy, microcephaly, dyskinesia, seizures and death in early childhood. We present two cousins with PCH2. Both patients presented with exaggerated startle response in the newborn period. Here we discuss the clinical and neuroradiological findings of PCH2, and its differentiation from familial startle disease or hereditary hyperekplexia

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Cite This Article

GENÇ, H. M., UYUR-YALÇINR, E., ROSTİ, R. Ö., GLEESON, J. G., KARA, B. (2015). TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family. Turkish Journal of Pediatrics, Cilt: 57 - Sayı: 3, 286–289. https://ajindex.com/articles/412288

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References (8)

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