Late-onset hydrocephalus in a child with Joubert syndrome: a case report

Fehrenbach, Michael Karl; Nestler, Ulf; Meixensberger, Juergen; Bernhard, Matthias K.; Merkenschlager, Andreas; Weise, Sebastian; Krause, Matthias

doi:10.1007/s00381-018-3767-0

Cited by 2 publications

(4 citation statements)

References 4 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…To date, only 22 patients with JBTS and hydrocephalus have been described: nine with postnatal onset, six diagnosed at birth, and seven diagnosed prenatally. [13][14][15][16][17][18][19][20][21][22]24 An additional 36 patients with ventriculomegaly have been documented in the literature. 15,16,25,26 A review of the patients with JBTS and enlarged ventricles is presented in Table 1.…”

Section: Discussionmentioning

confidence: 99%

“…A ventricular-peritoneal shunt was inserted in nine patients. [13][14][15][16][20][21][22] Two died, both soon after birth: one due to congenital heart disease and hydrocephalus complications, and the other from purulent meningitis at the age of 6 weeks. 19,22 JBTS is a ciliopathy.…”

Section: Discussionmentioning

confidence: 99%

“…30,37 It had been suggested that apart from the nonmotile cilia role in cell differentiation, it also affects CSF homeostasis. 30,38 A genetic diagnosis was made in 92% (49/53) of the patients with JBTS and ventriculomegaly (possibly due to reporting bias): KIAA0556 in four patients from one family, 20 KIAA0586 in three patients, 25 variants in OFD1 in six patients from four families, 13,19,25 CC2D2A in 13 out of 17 patients in one series, 15 three patients in another, 25 and two out of 53 in a third series. 16 TMEM216 was found in one patient, 18 TMEM67 in three patients, 25 CSPP1 in three patients, 25 C5ORF42 in two patients, 25 CEP290 in two T A B L E 1 Literature review of patients with the association of JBTS with ventriculomegaly/hydrocephalus.…”

Section: Discussionmentioning

confidence: 99%

“…Hydrocephalus is mentioned in a few case reports, [13][14][15][16][17][18][19][20][21][22] but only three have described prenatal diagnosis. In this study we present seven patients with JBTS who developed hydrocephalus in utero.…”

mentioning

confidence: 99%

See 3 more Smart Citations

Hydrocephalus associated with a molar tooth sign: A distinct subtype of Joubert syndrome

Gafner,

Haddad,

Gupta

et al. 2024

Develop Med Child Neuro

View full text Add to dashboard Cite

Hydrocephalus is rarely described in Joubert‐Boltshauser syndrome (JBTS). The aim of this study was to investigate whether this association is a chance occurrence or potentially signifies a new phenotypic subtype. The databases of Wolfson Medical Center, Sourasky Medical Center, and EB's personal collection were reviewed. Records from an additional family were obtained from RG. The patients' medical records, prenatal ultrasounds, and magnetic resonance imaging were assessed. In addition, we reviewed the medical literature for the association of ventriculomegaly/hydrocephalus (VM/HC) in JBTS. Only seven cases (from five families) were found with prenatal onset of VM/HC, diagnosed during the second trimester; three pregnancies were terminated, one was stillborn and three were born, of which one died within a week, and another died at the age of 6 years. Additional central nervous system findings included dysgenesis of the corpus callosum, delayed sulcation, polymicrogyria, and pachygyria. We found 16 publications describing 54 patients with JBTS and VM/HC: only five were diagnosed at birth and three were diagnosed prenatally. Hydrocephalus is extremely rare in JBTS. The recurrence of this association, reported in several publications in multiple family members, suggests that it might represent a new phenotypic subtype of JBTS possibly associated with specific genes or variants. Further genetic studies are needed to confirm this hypothesis.

show abstract