Congenital central hypoventilation syndrome mimicking mitochondrial disease

Rojnueangnit, Kitiwan; Descartes, Maria

doi:10.1002/ccr3.1320

Cited by 2 publications

(1 citation statement)

References 23 publications

(44 reference statements)

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“…Primary central hypoventilation syndromes usually present either in association with a clinically and genetically well determined diseases or as congenital central hypoventilation syndrome most commonly secondary to PHOX2B anomalies 1 . Peripheral causes include cardiac arrhythmias, underlying neuromuscular disease and mitochondrial diseases 1–4 …”

Section: Introductionmentioning

confidence: 99%

HIDEA syndrome: A rare cause of congenital hypoventilation in a premature infant

Lim

Tan

Visruthan

et al. 2022

Pediatric Pulmonology

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Background: HIDEA (hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy and eye abnormalities) syndrome is a rare and novel disease. We describe a premature patient who required extensive work up for his hypoventilation with a diagnosis of HIDEA syndrome.Case Description: The patient was born to a pair of consanguineous parents at 32-week gestation. His intermittent bradypnoea requiring significant respiratory support during his postnatal clinical course was atypical for bronchopulmonary dysplasia and this required further extensive work up to look for a cause for his hypoventilation. A trio whole exon sequencing was done which identified homozygous variants in P4HTM, in keeping with the diagnosis of autosomal recessive HIDEA syndrome. He is currently doing well on BiPAP 18 cm H2O / 8 cm H2O, Rate 30 breaths per minute in room air and full nasogastric feeding. He also has cortical blindess and severe global developmental delay. Conclusion:Early diagnosis is crucial to optimise adequate ventilatory management including early tracheostomy as many require lifelong continuous or intermittent ventilation. This minimises the complications of chronic hypoxia and reduces mortality risk.

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Section: Introductionmentioning

confidence: 99%

HIDEA syndrome: A rare cause of congenital hypoventilation in a premature infant

Lim

Tan

Visruthan

et al. 2022

Pediatric Pulmonology

View full text Add to dashboard Cite

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Neonatal Congenital Central Hypoventilation Syndrome: Why We Should not Sleep on it. Literature Review of Forty-two Neonatal Onset Cases

Bardanzellu

Pintus

Fanos

et al. 2019

CPR

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: Congenital Central Hypoventilation Syndrome (CCHS), also referred with the expression “Ondine’s Curse”, is a rare genetic life-long disease resulting from the mutation of PHOX2B gene on chromosome 4p12.3. CCHS represents an autonomic nervous system disorder; its more fearsome manifestation is central hypoventilation, due to a deficient response of chemoreceptors to hypercapnia and hypoxia. Several associated symptoms can occur, such as pupillary anomalies, arrhythmias, reduced heart rate variability, esophageal dysmotility, and structural comorbidities (Hirschsprung’s Disease or neural crest tumours). : CCHS typical onset is during the neonatal period, but cases of delayed diagnosis have been reported; moreover, both sporadic or familial cases can occur. : In preterm newborns, asphyxia and typical prematurity-related findings may overlap CCHS clinical manifestations and make it harder to formulate a correct diagnosis. : The early recognition of CCHS allows appropriate management, useful to reduce immediate and long- term consequences.

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Congenital central hypoventilation syndrome mimicking mitochondrial disease

Cited by 2 publications

References 23 publications

HIDEA syndrome: A rare cause of congenital hypoventilation in a premature infant

HIDEA syndrome: A rare cause of congenital hypoventilation in a premature infant

Neonatal Congenital Central Hypoventilation Syndrome: Why We Should not Sleep on it. Literature Review of Forty-two Neonatal Onset Cases

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