Pontocerebellar hypoplasia type 2 (PCH2): report of two siblings

Coppola, Giangennaro; Muras, I.; Pascotto, Antonio

doi:10.1016/s0387-7604(00)00093-0

Cited by 14 publications

(11 citation statements)

References 8 publications

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“…In a chart review of 24 children with PCH type II, significant developmental and language delays were reported in all children 60 . A series of case reports have also been published 63–65 in which all four children presented with developmental delay and two were reported to have language deficits 63 . Neurological findings included microcephaly in all children, 60,63–65 seizures (25%), 60 respiratory abnormalities (46%), 60 hypotonia (16%), 60,65 hypertonia (13%), 60,63,64 oculomotor anomalies, 63 ataxia (8%), 60 and dyskinetic and choreic movements (58%) 60,64,65 …”

Section: Resultsmentioning

confidence: 99%

Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review

Bolduc

Limperopoulos

2009

Develop Med Child Neuro

150

151

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Cerebellar malformations are increasingly diagnosed in the fetal period. Consequently, their consideration requires stressful and often critical decisions from both clinicians and families. This has resulted in an emergent need to understand better the impact of these early life lesions on child development. We performed a comprehensive literature search of studies describing neurodevelopmental outcomes of cerebellar malformations between January 1997 and December 2007. Overall, the data suggested that children with isolated inferior vermis hypoplasia (IVH) and mega cisterna magna (MCM) have a good developmental outcome, whereas children with molar tooth sign/Joubert syndrome, vermis hypoplasia, pontocerebellar hypoplasia (PCH) type II, and cerebellar agenesis experience moderate to severe global developmental delays. Reports for Dandy−Walker malformation (DWM) were conflicting; however, the presence of a normally lobulated vermis and the absence of associated brain anomalies were associated with a more favourable outcome. Finally, children with isolated cerebellar hypoplasia experienced fewer impairments. Important methodological limitations highlighted include a lack of standardized outcome measure use in 79% of studies and the predominant use of retrospective study designs (85%), with 40% limited to case reports or case‐series. In summary, rigorous outcome studies describing the spectrum of disabilities in survivors are urgently needed to accurately delineate the long‐term neurodevelopmental consequences of cerebellar malformations.

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Section: Resultsmentioning

confidence: 99%

Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review

Bolduc

Limperopoulos

2009

Develop Med Child Neuro

150

151

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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: 94%

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 (PCH) is a rare disorder with only about 20 patients described so far [9]. An autosomal model of inheritance has been proposed [7].…”

Section: Introductionmentioning

confidence: 99%

Pontocerebellar hypoplasia type 2

Grosso

Mostadini

Cioni

et al. 2002

Journal of Neurology

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Pontocerebellar hypoplasia type 2 (PCH2) is a very rare autosomal recessive disorder. We report two unrelated female patients born to consanguineous parents presenting with this condition. Patient 1 showed a classical clinical/neuroradiological phenotype of PCH2 with dyskinesia/dystonia. Patient 2 had a neonatal onset of PCH2 with polyhydramnios, apneic spells, myoclonus, and an akinetic/rigidity condition. Neuroradiologically, patient 2 showed extensive pancerebral degeneration. Based on these observations, and in accordance with the published cases, two groups of PCH2 patients may be defined: (a) patients with dyskinesia/dystonia, severe hypoplasia of the infratentorial structures and less severe involvement of the supratentorial brain; and (b) patients with polyhydramnios, neonatal onset with tremulousness (hyperekplexia), no spontaneous activity, absence of dyskinesia and pancerebral degeneration. Finally, we report a dramatic positive response of the patient with dyskinesia/dystonia to levodopa treatment, and discuss the associated physiopathological implications.

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Pontocerebellar hypoplasia type 2 (PCH2): report of two siblings

Cited by 14 publications

References 8 publications

Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review

Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review

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

Pontocerebellar hypoplasia type 2

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