Association of Joubert syndrome and Hirschsprung disease.

Purkait, Radheshyam; Basu, Rajarshi; Das, Rituparna; Chatterjee, Uttara

Purkait, Radheshyam; Basu, Rajarshi; Das, Rituparna; Chatterjee, Uttara.

Afiliación

Purkait R; Department of Paediatric Medicine, NRS Medical College and Hospital, Kolkata; and *Department of Pathology, IPGMER and SSKM Hospital, Kolkata, India. Correspondence to: Dr Radheshyam Purkait, Associate Professor, Department of Paediatric Medicine, NRS Medical College and Hospital, Kolkata 700 014, West Bengal, India. radheshyampurkait@gmail.com.

Indian Pediatr ; 52(1): 61-2, 2015 Jan.

Article en En | MEDLINE | ID: mdl-25638189

ABSTRACT

ABSTRACT

BACKGROUND:

Association between Joubert Syndrome and Hirschsprung disease is rare. CASE CHARACTERISTICS A 9-month-old girl having developmental delay and chronic constipation. OBSERVATION Molar tooth sign on MRI brain and absence of ganglion cells in rectal biopsy specimen.

OUTCOME:

Child underwent surgical repair for Hirschsprung disease. MESSAGE Association of these two rare entities could be explained by ciliopathy.

Asunto(s)

Cerebelo/anomalías; Enfermedad de Hirschsprung; Retina/anomalías; Anomalías Múltiples; Encéfalo/patología; Estreñimiento; Discapacidades del Desarrollo; Anomalías del Ojo; Femenino; Humanos; Lactante; Enfermedades Renales Quísticas; Recto/patología

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Banco de datos: MEDLINE Asunto principal: Retina / Cerebelo / Enfermedad de Hirschsprung Tipo de estudio: Risk_factors_studies Límite: Female / Humans / Infant Idioma: En Año: 2015 Tipo del documento: Article

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