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MICrocephaly, disproportionate pontine and cerebellar hypoplasia syndrome: A clinico-radiologic phenotype linked to calcium/calmodulin-dependent serine protein kinase gene mutation.

Saleem R, Setty G, Hussain N - Indian J Hum Genet (2013)

Bottom Line: MICrocephaly, disproportionate pontine and cerebellar hypoplasia (MICPCH) syndrome, a rare X-linked disorder, generally seen in girls, is characterized by neurodevelopmental delay, microcephaly, and disproportionate pontine and cerebellar hypoplasia.It is caused by inactivating calcium/calmodulin-dependent serine protein kinase (CASK) gene mutations.Our case highlights the importance of using clinico-radiologic phenotype to guide genetic investigation and it also confirms the role of a-CGH analysis in establishing the genetic diagnosis of MICPCH syndrome, when conventional cytogenetic studies are inconclusive.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatric Neurology, Leicester Royal Infirmary, University Hospitals of Leicester NHS Trust, United Kingdom.

ABSTRACT
MICrocephaly, disproportionate pontine and cerebellar hypoplasia (MICPCH) syndrome, a rare X-linked disorder, generally seen in girls, is characterized by neurodevelopmental delay, microcephaly, and disproportionate pontine and cerebellar hypoplasia. It is caused by inactivating calcium/calmodulin-dependent serine protein kinase (CASK) gene mutations. We report a 2-year-old girl with severe neurodevelopmental delay, microcephaly, minimal pontine hypoplasia, cerebellar hypoplasia, and normal looking corpus callosum, with whom the conventional cytogenetic studies turned out to be normal, and an array-comparative genomic hybridization (a-CGH) analysis showed CASK gene duplication at Xp11.4. Our case highlights the importance of using clinico-radiologic phenotype to guide genetic investigation and it also confirms the role of a-CGH analysis in establishing the genetic diagnosis of MICPCH syndrome, when conventional cytogenetic studies are inconclusive.

No MeSH data available.


Related in: MedlinePlus

T1-weighted sagittal image of a 2-year-old girl. Note the hypoplastic pons and cerebellum with normal appearance of the corpus callosum
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Figure 1: T1-weighted sagittal image of a 2-year-old girl. Note the hypoplastic pons and cerebellum with normal appearance of the corpus callosum

Mentions: As a part of her diagnostic work-up, she underwent extensive investigations. Magnetic resonance imaging (MRI) showed prominent lateral ventricles, mega cisterna magna, small cerebellum, and normal corpus callosum [Figure 1]. Neurometabolic investigations were normal and Toxoplasmosis, Rubella, Cytomegalovirus, Herpes simplex (TORCH) studies were negative.


MICrocephaly, disproportionate pontine and cerebellar hypoplasia syndrome: A clinico-radiologic phenotype linked to calcium/calmodulin-dependent serine protein kinase gene mutation.

Saleem R, Setty G, Hussain N - Indian J Hum Genet (2013)

T1-weighted sagittal image of a 2-year-old girl. Note the hypoplastic pons and cerebellum with normal appearance of the corpus callosum
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3722619&req=5

Figure 1: T1-weighted sagittal image of a 2-year-old girl. Note the hypoplastic pons and cerebellum with normal appearance of the corpus callosum
Mentions: As a part of her diagnostic work-up, she underwent extensive investigations. Magnetic resonance imaging (MRI) showed prominent lateral ventricles, mega cisterna magna, small cerebellum, and normal corpus callosum [Figure 1]. Neurometabolic investigations were normal and Toxoplasmosis, Rubella, Cytomegalovirus, Herpes simplex (TORCH) studies were negative.

Bottom Line: MICrocephaly, disproportionate pontine and cerebellar hypoplasia (MICPCH) syndrome, a rare X-linked disorder, generally seen in girls, is characterized by neurodevelopmental delay, microcephaly, and disproportionate pontine and cerebellar hypoplasia.It is caused by inactivating calcium/calmodulin-dependent serine protein kinase (CASK) gene mutations.Our case highlights the importance of using clinico-radiologic phenotype to guide genetic investigation and it also confirms the role of a-CGH analysis in establishing the genetic diagnosis of MICPCH syndrome, when conventional cytogenetic studies are inconclusive.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatric Neurology, Leicester Royal Infirmary, University Hospitals of Leicester NHS Trust, United Kingdom.

ABSTRACT
MICrocephaly, disproportionate pontine and cerebellar hypoplasia (MICPCH) syndrome, a rare X-linked disorder, generally seen in girls, is characterized by neurodevelopmental delay, microcephaly, and disproportionate pontine and cerebellar hypoplasia. It is caused by inactivating calcium/calmodulin-dependent serine protein kinase (CASK) gene mutations. We report a 2-year-old girl with severe neurodevelopmental delay, microcephaly, minimal pontine hypoplasia, cerebellar hypoplasia, and normal looking corpus callosum, with whom the conventional cytogenetic studies turned out to be normal, and an array-comparative genomic hybridization (a-CGH) analysis showed CASK gene duplication at Xp11.4. Our case highlights the importance of using clinico-radiologic phenotype to guide genetic investigation and it also confirms the role of a-CGH analysis in establishing the genetic diagnosis of MICPCH syndrome, when conventional cytogenetic studies are inconclusive.

No MeSH data available.


Related in: MedlinePlus