Cargando…
A case report of Joubert syndrome with renal involvement and seizures in a neonate
Joubert Syndrome is a rare autosomal recessive genetic disorder characterized by a distinctive midbrain-hindbrain malformation that gives the appearance of “the molar tooth sign” on axial magnetic resonance imaging (MRI). Mutations in the implicated genes, affect proteins integral to cellular struct...
Autores principales: | , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7921194/ https://www.ncbi.nlm.nih.gov/pubmed/33717386 http://dx.doi.org/10.1016/j.radcr.2021.02.031 |
_version_ | 1783658428047032320 |
---|---|
author | Ahmetgjekaj, Ilir Rahman, Masum Hyseni, Fjolla Guy, Ali Madani, Kulsum Saliaj, Kristi Guy, Angela Vokshi, Valon Kola, Ina Musa, Juna |
author_facet | Ahmetgjekaj, Ilir Rahman, Masum Hyseni, Fjolla Guy, Ali Madani, Kulsum Saliaj, Kristi Guy, Angela Vokshi, Valon Kola, Ina Musa, Juna |
author_sort | Ahmetgjekaj, Ilir |
collection | PubMed |
description | Joubert Syndrome is a rare autosomal recessive genetic disorder characterized by a distinctive midbrain-hindbrain malformation that gives the appearance of “the molar tooth sign” on axial magnetic resonance imaging (MRI). Mutations in the implicated genes, affect proteins integral to cellular structures like the primary cilium, basal bodies and centromeres, categorizing Joubert syndrome as a ciliopathy. The most common clinical manifestations include moderate to severe hypotonia in early infancy with ataxia developing later in life, abnormal breathing patterns (tachypnea, apnea), atypical eye movements, development delay and intellectual disabilities. Differential diagnosis between different ciliopathies is challenging due to the overlapping clinical features. French neurologist Marie Joubert was the first to describe the clinical findings in 1969 and later the disorder was named after her. In this report, we present the case of a newborn female patient who was admitted to the neonatal intensive care unit 12 hours after birth, presenting with dyspnea, cyanosis, signs of respiratory distress and seizures. During the course of her hospitalization elevated levels of urea and creatinine were detected and after an abdominal ultrasound and CT evaluation bilateral renal hyperplasia and polycystic kidney disease were discovered. An MRI of the head and neck revealed the presence of inferior vermis agenesis, with a medial crack in cerebellum, a partial dysgenesis of corpus callosum, an underlying and thicker cerebral peduncle, as well as the molar tooth sign suggesting a diagnosis of Joubert syndrome. The diagnosis was ultimately confirmed through molecular genetic testing. Through this case report, we hope to draw attention to this rare and elusive group of disorders and emphasize the value of a prompt diagnosis and a proactive and multidisciplinary approach in the management of these patients. |
format | Online Article Text |
id | pubmed-7921194 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-79211942021-03-12 A case report of Joubert syndrome with renal involvement and seizures in a neonate Ahmetgjekaj, Ilir Rahman, Masum Hyseni, Fjolla Guy, Ali Madani, Kulsum Saliaj, Kristi Guy, Angela Vokshi, Valon Kola, Ina Musa, Juna Radiol Case Rep Case Report Joubert Syndrome is a rare autosomal recessive genetic disorder characterized by a distinctive midbrain-hindbrain malformation that gives the appearance of “the molar tooth sign” on axial magnetic resonance imaging (MRI). Mutations in the implicated genes, affect proteins integral to cellular structures like the primary cilium, basal bodies and centromeres, categorizing Joubert syndrome as a ciliopathy. The most common clinical manifestations include moderate to severe hypotonia in early infancy with ataxia developing later in life, abnormal breathing patterns (tachypnea, apnea), atypical eye movements, development delay and intellectual disabilities. Differential diagnosis between different ciliopathies is challenging due to the overlapping clinical features. French neurologist Marie Joubert was the first to describe the clinical findings in 1969 and later the disorder was named after her. In this report, we present the case of a newborn female patient who was admitted to the neonatal intensive care unit 12 hours after birth, presenting with dyspnea, cyanosis, signs of respiratory distress and seizures. During the course of her hospitalization elevated levels of urea and creatinine were detected and after an abdominal ultrasound and CT evaluation bilateral renal hyperplasia and polycystic kidney disease were discovered. An MRI of the head and neck revealed the presence of inferior vermis agenesis, with a medial crack in cerebellum, a partial dysgenesis of corpus callosum, an underlying and thicker cerebral peduncle, as well as the molar tooth sign suggesting a diagnosis of Joubert syndrome. The diagnosis was ultimately confirmed through molecular genetic testing. Through this case report, we hope to draw attention to this rare and elusive group of disorders and emphasize the value of a prompt diagnosis and a proactive and multidisciplinary approach in the management of these patients. Elsevier 2021-02-24 /pmc/articles/PMC7921194/ /pubmed/33717386 http://dx.doi.org/10.1016/j.radcr.2021.02.031 Text en © 2021 The Authors. Published by Elsevier Inc. on behalf of University of Washington. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Case Report Ahmetgjekaj, Ilir Rahman, Masum Hyseni, Fjolla Guy, Ali Madani, Kulsum Saliaj, Kristi Guy, Angela Vokshi, Valon Kola, Ina Musa, Juna A case report of Joubert syndrome with renal involvement and seizures in a neonate |
title | A case report of Joubert syndrome with renal involvement and seizures in a neonate |
title_full | A case report of Joubert syndrome with renal involvement and seizures in a neonate |
title_fullStr | A case report of Joubert syndrome with renal involvement and seizures in a neonate |
title_full_unstemmed | A case report of Joubert syndrome with renal involvement and seizures in a neonate |
title_short | A case report of Joubert syndrome with renal involvement and seizures in a neonate |
title_sort | case report of joubert syndrome with renal involvement and seizures in a neonate |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7921194/ https://www.ncbi.nlm.nih.gov/pubmed/33717386 http://dx.doi.org/10.1016/j.radcr.2021.02.031 |
work_keys_str_mv | AT ahmetgjekajilir acasereportofjoubertsyndromewithrenalinvolvementandseizuresinaneonate AT rahmanmasum acasereportofjoubertsyndromewithrenalinvolvementandseizuresinaneonate AT hysenifjolla acasereportofjoubertsyndromewithrenalinvolvementandseizuresinaneonate AT guyali acasereportofjoubertsyndromewithrenalinvolvementandseizuresinaneonate AT madanikulsum acasereportofjoubertsyndromewithrenalinvolvementandseizuresinaneonate AT saliajkristi acasereportofjoubertsyndromewithrenalinvolvementandseizuresinaneonate AT guyangela acasereportofjoubertsyndromewithrenalinvolvementandseizuresinaneonate AT vokshivalon acasereportofjoubertsyndromewithrenalinvolvementandseizuresinaneonate AT kolaina acasereportofjoubertsyndromewithrenalinvolvementandseizuresinaneonate AT musajuna acasereportofjoubertsyndromewithrenalinvolvementandseizuresinaneonate AT ahmetgjekajilir casereportofjoubertsyndromewithrenalinvolvementandseizuresinaneonate AT rahmanmasum casereportofjoubertsyndromewithrenalinvolvementandseizuresinaneonate AT hysenifjolla casereportofjoubertsyndromewithrenalinvolvementandseizuresinaneonate AT guyali casereportofjoubertsyndromewithrenalinvolvementandseizuresinaneonate AT madanikulsum casereportofjoubertsyndromewithrenalinvolvementandseizuresinaneonate AT saliajkristi casereportofjoubertsyndromewithrenalinvolvementandseizuresinaneonate AT guyangela casereportofjoubertsyndromewithrenalinvolvementandseizuresinaneonate AT vokshivalon casereportofjoubertsyndromewithrenalinvolvementandseizuresinaneonate AT kolaina casereportofjoubertsyndromewithrenalinvolvementandseizuresinaneonate AT musajuna casereportofjoubertsyndromewithrenalinvolvementandseizuresinaneonate |