The genetic landscape of familial congenital hydrocephalus

Shaheen, Ranad; Sebai, Mohammed Adeeb; Patel, Nisha; Ewida, Nour; Kurdi, Wesam; Altweijri, Ikhlass; Sogaty, Sameera; Almardawi, Elham; Seidahmed, Mohammed Zain; Alnemri, Abdulrahman; Madirevula, Sateesh; Ibrahim, Niema; Abdulwahab, Firdous; Al‐Sheddi, Tarfa; Alomar, Rana; Alobeid, Eman; Sallout, Bahauddin; Albaqawi, Badi S.; AlAali, Wajeih Y.; Ajaji, Nouf; Lesmana, Harry; Hopkin, Robert J.; Dupuis, Lucie; Mendoza-Londoño, Roberto; Rukban, Hadeel Al; Yoon, Grace; Faqeih, Eissa; Alkuraya, Fowzan S.

doi:10.1002/ana.24964

Cited by 117 publications

(91 citation statements)

References 31 publications

(86 reference statements)

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“…These include biallelic mutations in KATNB1 (Hu et al, 2014), WDR81 (Shaheen et al, 2017), and WDR62 (Bilgüvar et al, 2010). Nevertheless, the combination of severe microcephaly, early onset epilepsy, lissencephaly, and/or hyranencephaly should raise the suspicion to NDE1-related disorder.…”

Section: Discussionmentioning

confidence: 99%

Phenotypic spectrum of NDE1‐related disorders: from microlissencephaly to microhydranencephaly

Abdel‐Hamid

El-Dessouky

Ateya

et al. 2019

American J of Med Genetics Pt A

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Biallelic variants in the NDE1 gene have been shown to occur in extreme microcephaly. Most of the patients displayed microlissencephaly but one with microhydranencephaly. We report on three sibs in which the brain MRI and CT scans demonstrated variable degree of reduced volume of cerebral hemispheres and ventriculomegaly. Further, they had agenesis of corpus callosum, cerebellar, and brainstem hypoplasia. Fetal ultrasound at 32 weeks' gestation of the third sib revealed severe micrencephaly with extensive hydranencephaly and an anomaly consistent with non cleaved (fused) thalami. Because of the fused thalami, the STIL gene was targeted initially but showed negative results. His postnatal MRI showed that the cerebral hemispheres are markedly reduced in size (with no definite frontal, parietal, or occipital lobes) and replaced by a large sac filled with CSF. An intact falx cerebri was identified. This extensive hydarencephaly led us to consider the NDE1 and to identify a novel homozygous nonsense variant (c.54G>A, p.W18*). The variability of the degree of brain malformations and the apparent fusion of the thalami were illusive and delayed the recognition of the genetic etiology. Our results provide the first antenatal description of this rare syndrome. Further, we expand the genetic architecture and the neuroradiologic phenotype of NDE1-related disorders.

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Section: Discussionmentioning

confidence: 99%

Phenotypic spectrum of NDE1‐related disorders: from microlissencephaly to microhydranencephaly

Abdel‐Hamid

El-Dessouky

Ateya

et al. 2019

American J of Med Genetics Pt A

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“…VP shunt plays an important role in managing hydrocephalus and has good efficiency on treatment options, but has the potential serious postoperative complications [1, 2]. Improper management might lead to shunt failure.…”

Section: Discussionmentioning

confidence: 99%

“…Ventriculoperitoneal (VP) shunt is one of the most frequent treatment for hydrocephalus [1], used to drained excessive cerebrospinal fluid (CSF) accumulated in cerebral ventricles into abdominal cavity to balance the secretion and absorption of CSF. However, the incidence of complications of VP shunt was up to 30% [2, 3].…”

Section: Introductionmentioning

confidence: 99%

Sub-capsular effusion of liver as a rare complication of ventriculoperitoneal shunt in a child

Zhang

Liu

Wang

et al. 2017

Journal of Surgical Case Reports

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The most common procedure to deal with hydrocephalus is ventriculoperitoneal (VP) shunt. The purpose of the shunt is to drain cerebrospinal fluid from cerebral ventricles to abdominal cavity. Many complications of VP shunts have been reported such as infection, obstruction, overdrainage. Abdominal complications occur in ~15–25% of VP shunts in pediatric patients, such as peritonitis, hernia, abscess, perforated colon, perforated bladder and abdominal pseudocyst. However, sub-capsular effusion of liver is a rare complication of VP shunt. In this case report, We described an unusual case of VP shunt complication in a 2-year-old child who presented with intermittent fever and abdominal pain.

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“…It is an X-linked disorder presenting with stenosis of the aqueduct of Sylvius (Verhagen et al, 2011). CCDC88C, MPDZ, and WDR81 were identified as disease-causing genes in several families presenting with autosomal recessive non-syndromic hydrocephalus (Al-Dosari et al, 2013;Drielsma et al, 2012;Shaheen et al, 2017). Congenital hydrocephalus more often manifests not as an isolated feature, but as part of a syndrome, however.…”

Section: Introductionmentioning

confidence: 99%

Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families

Preikšaitienė

Voisin

Gueneau

et al. 2019

American J of Med Genetics Pt A

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Biallelic pathogenic variants in POMK gene are associated with two types of dystroglycanopathies: limb‐girdle muscular dystrophy‐dystroglycanopathy, type C12 (MDDGC12), and congenital muscular dystrophy‐dystroglycanopathy with brain and eye anomalies, type A12 (MDDGA12). These disorders are very rare and have been previously reported in 10 affected individuals. We present two unrelated Lithuanian families with prenatally detected hydrocephalus due to a homozygous nonsense variant in the POMK. The first signs of hydrocephalus in the affected fetuses became evident at 15 weeks of gestation and rapidly progressed, thus these clinical features are compatible with a diagnosis of MDDGA12. The association between pathogenic POMK variants and macrocephaly and severe hydrocephalus has been previously reported only in two families. Clinical and molecular findings presented in this report highlight congenital hydrocephalus as a distinct feature of POMK related disorders and a differentiator from other dystroglycanopathies. These findings further extend the spectrum of MDDGA12 syndrome.

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The genetic landscape of familial congenital hydrocephalus

Abstract: Our study highlights the importance of recessive mutations in familial congenital hydrocephalus and expands the locus heterogeneity of this condition. Ann Neurol 2017;81:890-897.

Cited by 117 publications

References 31 publications

Phenotypic spectrum of NDE1‐related disorders: from microlissencephaly to microhydranencephaly

Phenotypic spectrum of NDE1‐related disorders: from microlissencephaly to microhydranencephaly

Sub-capsular effusion of liver as a rare complication of ventriculoperitoneal shunt in a child

Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families

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