Haddad syndrome is a rare genetically conditioned disease. We present a female newborn with congenital central hypoventilation syndrome associated with Hirschprung's disease. The infant is mechanically ventilated and parentally fed in a home setting. The diagnosis has been confirmed by the presence of 20/26 PHOX2B genetic mutation.
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http://dx.doi.org/10.5603/AIT.2013.0006 | DOI Listing |
Pediatr Pulmonol
December 2024
Department of Pediatrics, New York Medical College, Valhalla, New York, USA.
Eur J Pediatr
November 2024
Department of Pediatrics, Seoul National University College of Medicine 101, Daehak-Ro, Jongno-Gu, Seoul, 03080, Republic of Korea.
Horm Res Paediatr
October 2024
Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children, London, UK.
Introduction: Congenital central hypoventilation syndrome (CCHS) is a rare autosomal dominant condition due to mutations in the transcription factor PHOX2B. It is characterized by alveolar hypoventilation with symptoms of autonomic nervous system dysfunction. Hyperinsulinaemic hypoglycaemia (HH) due to glucose dysregulation caused by anomalous insulin secretion has been reported as a feature of CCHS.
View Article and Find Full Text PDFMol Ther Nucleic Acids
December 2024
Laboratory of Genetics and Genomics of Rare Diseases, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
Congenital central hypoventilation syndrome (CCHS), a rare genetic disease caused by heterozygous mutations, is characterized by life-threatening breathing deficiencies. PHOX2B is a transcription factor required for the specification of the autonomic nervous system, which contains, in particular, brainstem respiratory centers. In CCHS, mutations lead to cytoplasmic PHOX2B protein aggregations, thus compromising its transcriptional capability.
View Article and Find Full Text PDFArch Pediatr
October 2024
Service de pneumologie, allergologie, mucoviscidose, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, 69500 Bron, France; Service d'Épileptologie Clinique, des Troubles du Sommeil et de Neurologie Fonctionnelle de l'Enfant, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, 69500 Bron, France; Unité INSERM U1028 CNRS UMR 5292, Université Lyon 1, Lyon, France. Electronic address:
Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder of the autonomic nervous system resulting in decreased brain sensitivity to hypercapnia and hypoxia characterized by a genetic abnormality in the pair-like homeobox 2B (PHOX2B) gene. Most patients have a heterozygous expansion of the polyalanine repeat in exon 3 (PARM), while 10 % of patients have non-PARM (NPARM) mutations that can span the entire gene. The majority of pathogenic variants are de novo, but variants with incomplete penetrance can be identified in the heterozygous state.
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