Capillary Hemangioma in Joubert Syndrome: A Case Report

A baby girl who underwent cesarean section delivery and had a complicated postnatal course requiring neonatal intensive care unit (NICU) is followed in the pediatrics clinic for several months. At five months old, the baby girl was referred to an ophthalmology clinic with brain stem and cerebellum m...

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Bibliographic Details
Published in:Curēus (Palo Alto, CA) CA), 2023-05, Vol.15 (5), p.e38922
Main Authors: Nassim, Hala M, Alabdulqader, Reem A, Najmi, Hatim, Alsawadi, Hend M, Alotaibi, Hammam A
Format: Article
Language:English
Subjects:
Apraxia
Ataxia
Birth defects
Case reports
Child development
Genetics
Hemangioma
Hydrocephalus
Kidney diseases
Magnetic resonance imaging
Ophthalmology
Patients
Pediatrics
Prenatal development
Skin
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Summary:A baby girl who underwent cesarean section delivery and had a complicated postnatal course requiring neonatal intensive care unit (NICU) is followed in the pediatrics clinic for several months. At five months old, the baby girl was referred to an ophthalmology clinic with brain stem and cerebellum malformation consistent with the molar tooth sign (MTS) on magnetic resonance imaging (MRI) of the brain, hypotonia, and developmental delay. She has the classic features of Joubert Syndrome (JS). Other findings not typically associated with the clinical picture of the syndrome were observed in this patient, specifically skin capillary hemangioma of the forehead. Cutaneous capillary hemangioma was an incidental finding in this JS patient and responded favorably to medical treatment with propranolol where a significant reduction in the size of the mass was observed. This incidental finding can be seen as a potential addition to the spectrum of associated findings in JS.
ISSN:2168-8184
2168-8184
DOI:10.7759/cureus.38922