Sindrome de Joubert asociado a malformación de Dandy-Walker en un paciente pediátrico: Reporte de un caso

Álvarez-Sanz, Ana M.; Cabanillas-Burgos, Lizeth Y.; Huamani-Condori, Ximena P.

doi:10.20453/rnp.v80i1.3062

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“…However, these signs can also be found in other malformations, such as Dandy-Walker malformation and pontocerebellar hypoplasia, among others 12 . Based on obstetric ultrasound findings and complemented with fetal MRI, prenatal diagnosis of Joubert's syndrome is now possible during the third trimester of gestation 13 . However, in the case of our patient, prenatal diagnosis was not performed since the only abnormal finding reported was the measurement of cisterna magna in the 95 th percentile.…”

Section: Discussionmentioning

confidence: 99%

Joubert syndrome: a case report of neonatal presentation and early diagnosis

González-Gordillo,

Orozco-Soto,

Osegueda-Mayen

et al. 2023

BMHIM

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Background: Joubert syndrome is a rare genetic condition with a prevalence of 1:80,000-1:100,000. In most cases, it shows an autosomal autosomal recessive hereditary pattern, although X-linked and autosomal dominant cases have been described. The distinctive characteristic of this syndrome is the malformation at cerebral and cerebellar levels, known as the "molar tooth sign, " hypotonia, and delayed neurodevelopment. Case report: We describe the case of a newborn with transient tachypnea. However, during hospital stay, he showed other clinical signs not corresponding to the admission diagnosis, such as bradycardia, apneas, hypotonia, and alteration in swallowing mechanics. To rule out etiologies of central origin, we conducted a magnetic resonance of the brain and identified the "molar tooth sign, " where the pathognomonic sign of Joubert syndrome. Conclusions: Rare genetic diseases may manifest as early as the neonatal period with non-specific signs. The early diagnosis of Joubert syndrome is reflected in better pediatric follow-up, which impacts its prognosis and the possibility of improving the patient's quality of life with a multidisciplinary management and genetic counseling.

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Section: Discussionmentioning

confidence: 99%