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Haddad Syndrome

Congenital Central Alveolar Hypoventilation - Hirschsprung Disease Syndrome


Presentation

  • In association with Hirschsprung's disease (HSCR), it presents as Haddad's syndrome. We report a case of Haddad's syndrome complicated by sinus node dysfunction.[ncbi.nlm.nih.gov]
  • Lai.132@osu.edu Abstract This report presents an otherwise healthy infant who developed unexplained apnea and long-segment Hirschsprung disease.[ncbi.nlm.nih.gov]
  • 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.[ncbi.nlm.nih.gov]
  • Bilateral hypoplasia of the superior temporal lobe and gyral anomalies in the frontal cortex were present.[ncbi.nlm.nih.gov]
  • Disease typically presents in the newborn period.[nature.com]
Wide Face
  • In addition, people with CCHS, especially children, may have a characteristic appearance with a short, wide face, somewhat flattened.[ivami.com]
Tonic-Clonic Seizure
  • On the fifth day post-surgery, after an attempt to extubate, the baby developed apnea followed by tonic-clonic seizures. Blood gas revealed significant hypercarbia. Narcotic withdrawal and/or CNS pathology were suspected.[nature.com]

Workup

  • Laboratory workup vasculitis including cytoplasmic-anti-neutrophil cytoplasmic antibodie (C-ANCA), perinuclear-ANCA (P-ANCA), and atypical P-ANCA were all negative. IgE and tryptase levels were within the reference range.[avicennajmed.com]
  • Endocrine workups include: fasting morning cortisol and glucose, TSH, free4, growth hormone surrogates (IGF-1, IGFBP-3), LH, SFH, and testosterone (if 6mo age).[eyewiki.aao.org]
  • See Workup for more detail.[emedicine.medscape.com]
Epileptiform Activity
  • Initial EEG revealed epileptiform activity, which was considered to be a symptomatic event, possibly due to hypoxia. As repeated EEG still showed presence of seizure activity; the baby was started on diphenylhydantoin (Dilatin ).[nature.com]

Treatment

  • Treatment of Hirschsprung's disease is usually influenced by the association with Ondine's curse.[ncbi.nlm.nih.gov]
  • Although Haddad syndrome is extremely rare, awareness of the combination of long-segment HD in Haddad syndrome as well as radiographic manifestations may help to ensure a timely diagnosis as well as to facilitate optimal treatment of this unusual condition[ncbi.nlm.nih.gov]
  • The special considerations of dental care, especially caries treatment for the patient with Haddad syndrome are discussed.[synapse.koreamed.org]
  • We report the clinical features and disease progression of HS to provide better care for HS patients by achieving an earlier diagnosis and optimal treatment.[raredis.org]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]

Prognosis

  • The prognosis of Haddad syndrome is very poor, and survival is often less than 2 years. Treatment of Hirschsprung's disease is usually influenced by the association with Ondine's curse.[ncbi.nlm.nih.gov]
  • Other associated features: esophageal dysmotility sensorineural hearing defect neuroblastoma or ganglioneuroma Treatment and prognosis The respiratory symptom is detected on the first day of birth with the patient quickly given ventilatory support while[radiopaedia.org]
  • This result supports that the assay for PHOX2B polyalanine repeat mutation represents a highly sensitive and specific technique for confirming the diagnosis of CCHS and estimating the prognosis.[synapse.koreamed.org]
  • Where this is successful, the prognosis is good. However, in 3-4% of cases, colonic perforation complicates the presentation 2 and this and its sequelae significantly increase both mortality and morbidity.[radiopaedia.org]

Etiology

  • Genetic etiology is strongly suspected. Other autonomic nervous system dysfunctions, tumors of neural crest origin and Hirschsprung's disease are often found in affected children. Association with Hirschsprung's disease is known as Haddad syndrome.[ncbi.nlm.nih.gov]
  • Etiology Mutations in the PHOX2B gene are found in a significant number of patients with Haddad syndrome. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Although few documented cases of Haddad syndrome exist in the literature, the association of CCHS and HD suggests a common etiology involving neural crest development.[ncbi.nlm.nih.gov]
  • Although few documented cases of Haddad syndrome exist in the literature, the association of CCHS and HD suggests a common etiology involving neural crest development. No Reference information available - sign in for access.[ingentaconnect.com]

Epidemiology

  • […] data: Class of prevalence: Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of[csbg.cnb.csic.es]
  • […] data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant Epidemiological data: Class of prevalence: Average age onset: neonatal/infancy Average age of death: - Type of[csbg.cnb.csic.es]
  • Summary Epidemiology Birth incidence of Ondine syndrome is 1 in 200,000 live-births and Hirschsprung disease occurs concurrently in 16% of cases.[orpha.net]
  • - Ondine-Hirschsprung syndrome Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological[csbg.cnb.csic.es]
Sex distribution
Age distribution

Pathophysiology

  • In this article, the authors review the pathophysiology, anatomy, diagnosis, and treatment of this potentially devastating condition.[healio.com]
  • Inflammatory mediators such as histamine, neutral proteases, arachidonic acid products, platelet-activating factor, eosinophils and a variety of cytokines and chemokines have been implicated in its pathophysiology. [3] Eosinophils synthesize leukotriene[avicennajmed.com]
  • The pathophysiology of polycystic ovary syndrome. Clinical Endocrinology, 60: 1-17. 2004. 17-Tangvarasittichai S; Poonsub P. and Tangvarasittichai O. Association of serum lipoprotein ratios with insulin resistance in type 2 diabetes mellitus.[scla.org.sy]
  • Pathophysiology Although several hypotheses exist, the definitive pathophysiologic explanation for antidepressant discontinuation syndrome remains unknown.[aafp.org]
  • The natural history of this condition is reported to range from 3 weeks to 3 months, 5, 6 although persistent symptoms have also been reported up to one year later. 7 Although it is not currently well understood, the most commonly cited pathophysiological[ncbi.nlm.nih.gov]

Prevention

  • Appropriate treatment of ADHD in TS patients during childhood may prevent many behavioural problems in adulthood. The full text of this article hosted at iucr.org is unavailable due to technical difficulties.[onlinelibrary.wiley.com]
  • A preheated operating room (27 C), warming blanket and fluid warmers prevented cooling.[journals.lww.com]
  • Prevention [ edit ] Friction blisters [ edit ] Friction blisters, caused by rubbing against the skin, can be prevented by reducing the friction to a level where blisters will not form. [3] [4] [5] [10] This can be accomplished in a variety of ways.[en.wikipedia.org]

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