Pontocerebellar Hypoplasia in Two Siblings With Dysmorphic Features

Dilber, Embiya; Aynaci, Fatma Müjgan; Ahmetoğlu, Ali

doi:10.1177/088307380201700119

Cited by 14 publications

(15 citation statements)

References 11 publications

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“…15 16 In one report there was additional white matter involvement 15 and in the other there were dysmorphic features. 16 Prenatal involvement (polyhydramnios), myoclonus, spasticity, and apnoeic episodes (hyperekplexia-like picture), and fatal outcome in infancy were described in several reports [17][18][19] The clinical presentation of our group of patients is most similar to that of PCH 2: neurological involvement from birth, virtually absent developmental milestones, spasticity, progressive microcephaly, and myoclonic jerks. However, choreoathetosis/dystonia was absent in our patients and seizures were more prevalent.…”

Section: Discussionmentioning

confidence: 51%

Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia

Ben‐Zeev

2003

Journal of Medical Genetics

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Section: Discussionmentioning

confidence: 51%

Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia

Ben‐Zeev

2003

Journal of Medical Genetics

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“…One of the siblings displayed dysmorphic features, as we previously reported 11 before the identification of the genetic defect in this family.…”

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confidence: 56%

The Very Low Density Lipoprotein Receptor–Associated Pontocerebellar Hypoplasia and Dysmorphic Features in Three Turkish Patients

et al. 2012

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Pontocerebellar hypoplasia consists of a rare heterogeneous group of congenital neurodevelopmental disorders characterized by hypoplasia and atrophy of the cerebellar cortex, dentate and pontine nuclei, and inferior olives. The very low density lipoprotein receptor protein is an integral part of the reelin signaling pathway, which guides neuroblast migration in the cerebral cortex and cerebellum. Mutations in this receptor cause nonprogressive cerebellar ataxia, mental retardation, and cerebellar hypoplasia. In this report, we present 3 patients from 2 different families displaying very low density lipoprotein receptor-associated pontocerebellar hypoplasia, cortical dysplasia, mental retardation, and bipedal gait. One of the siblings has also displayed dysmorphic features, as we previously reported before the identification of the genetic defect in this family. © The Author(s) 2012Reprints and permission: sagepub.com/journalsPermissions.nav Corresponding Author: Fatma Mujgan Sonmez, MD, Department of Child Neurology, Fatih University, Faculty of Medicine, Alparslan Turkes Caddesi, No: 57, Emek, Ankara, Turkey. mjgsonmez@yahoo.com. Author ContributionsThe cases were diagnosed and followed by FMS; the DNA isolation of the patients was performed by FC; the molecular genetic analyses of the samples were done by JGG in Gleeson Lab, San Diego; and the radiologic evaluation was done by SK. The article was written by FMS.These cases will be presented as, oral presentation in the 17th Mediterranean Child Neurology Congress, September 14-17 2011, Slovenia, Piran. Declaration of Conflicting InterestsThe authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article. Ethical ApprovalThis work was deemed exempt from formal review by the institutional review board of Fatih University, Faculty of Medicine. The gene consists of 19 exons and encodes an 873-amino acid receptor protein that belongs to the low-density lipoprotein receptor superfamily. 8 In humans, 2 isoforms of the receptor have been described. 9 Type I is mainly expressed in heart and skeletal muscles and takes place in active fatty acid metabolism and type II is predominant in nonmuscular tissue such as the kidney, spleen, adrenal gland, lung, uterus, testis, ovary, and brain. 9,10 We present 3 patients from 2 different families displaying very low density lipoprotein receptor-associated pontocerebellar hypoplasia, cortical dysplasia, mental retardation, and bipedal gait. One of the siblings displayed dysmorphic features, as we previously reported 11 before the identification of the genetic defect in this family. HHS Public Access Case Summary Case 1A 26-year-old woman, who was born to first-cousin parents, was first admitted with complaints of microcephaly and mental and motor retardation at 8 months of age. Head control was achieved at 7 months. At age 30 months, she was unable to sit and walk. At the age of 17 years, physical examination revealed a high arched palate, triangular-shaped f...

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“…Subsequent publications have confirmed the distinction between the two main types [Barth et al, 1995;Uhl et al, 1998;Muntoni et al, 1999;Coppola et al, 2000;Dilber et al, 2002;Grosso et al, 2002]. The genetic basis of both types is not yet elucidated.…”

Section: Pontocerebellar Hypoplasiasmentioning

confidence: 80%

“…Apparently the spectrum of PCH needs to be expanded. Dilber et al [2002] observed two siblings with MRI features similar to PCH, but the clinical phenotype was different. They had microcephaly, motor and mental retardation, but not extrapyramidal dyskinesia, and they were ambulant.…”

Section: Pontocerebellar Hypoplasiasmentioning

confidence: 88%

Cerebellum—small brain but large confusion: A review of selected cerebellar malformations and disruptions

Boltshauser

2004

American J of Med Genetics Pt A

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Defining and classifying congenital disorders of the cerebellum can be difficult and confusing. One reason is that some abnormalities called "malformations" are not truly (primary) developmental malformations. This applies to Chiari I "malformations" as well as to Chiari II "malformations." The latter results mainly from a prenatal cerebrospinal fluid (CSF) leak. Also disruptive cerebellar lesions are not uncommon, examples being the "vanishing cerebellum" in myelomeningocele, cerebellar lesions in very low birth weight prematurely born infants, unilateral cerebellar hypoplasia/aplasia, and probably some instances of cerebellar agenesis (CA). The cerebellar hypoplasias consist of a heterogeneous group of inherited and prenatally acquired conditions. The concept of pontocerebellar hypoplasias will need to be expanded beyond the two main types (PCH-1 and PCH-2), and demonstrate that a classification system of cerebellar malformations cannot be based on neuroimaging criteria only. Additional studies are expected to show that this also applies to the molar tooth sign, which was initially described in Joubert syndrome (JS). The JS is the prototype of midhindbrain malformation, but its delineation is still unsolved. JS may well be an overdiagnosed entity; many cases likely not having JS are on record. Rhombencephalosynapsis (RS) has been increasingly diagnosed with the advent of neuroimaging. No familial cases have been observed. Although many affected individuals have variable impairments, RS can be found in children with normal cognitive function. In this review, some of the cerebellar anomalies are briefly discussed.

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Pontocerebellar Hypoplasia in Two Siblings With Dysmorphic Features

Cited by 14 publications

References 11 publications

Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia

Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia

The Very Low Density Lipoprotein Receptor–Associated Pontocerebellar Hypoplasia and Dysmorphic Features in Three Turkish Patients

Cerebellum—small brain but large confusion: A review of selected cerebellar malformations and disruptions

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