Shah-Waardenburg syndrome

Mahmoudi, Abdelhalim; Rami, Mansour; Khattala, Khalid; Elmadi, Aziz; Afifi, My Abderrahmane; Bouabdallah, Youssef

doi:10.11604/pamj.2013.14.60.1543

Cited by 15 publications

(13 citation statements)

References 13 publications

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“…These data suggest that the prevalence of WS in childhood deafness may vary between 1% and 3% in sub-Saharan African populations. [14] Hirschsprung's disease, a major feature in WS4, accounts for a significant part of the early childhood mortality in these patients. This finding differs from those of other studies in Africa.…”

Section: Discussionmentioning

confidence: 99%

Waardenburg syndrome in childhood deafness in Cameroon

Noubiap¹,

Djomou²,

Njock³

et al. 2014

S Afr J CH

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Section: Discussionmentioning

confidence: 99%

Waardenburg syndrome in childhood deafness in Cameroon

Noubiap¹,

Djomou²,

Njock³

et al. 2014

S Afr J CH

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“…This patient was atypical in the absence of a white forelock of hair or hair depigmentation and although alopecia is not a diagnostic criterion for WS4, congenital alopecia totalis has been reported with Hirschsprung’s disease [8]. Previously reported cases of WS4 have been diagnosed in the neonatal period [9, 10] and the Duhamel procedure in our case was performed relatively late.…”

Section: Discussionmentioning

confidence: 76%

The additional genetic diagnosis of homozygous sickle cell disease in a patient with Waardenburg-Shah syndrome: a case report

Rankine-Mullings

Serjeant²,

Ramsay

et al. 2019

J Med Case Reports

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BackgroundIt is important that multiple genetic diagnoses are not missed. This case report describes the clinical features and management of a patient with co-inheritance of Waardenburg syndrome type 4 or Waardenburg-Shah syndrome, an extremely rare disease, and homozygous sickle cell disease not uncommon in the Caribbean. This case is unusual as it may be the first documented case of the co-inheritance of both these diseases. Given the commonality of sickle cell and related hemoglobinopathies, such combined disorders are likely to be under-reported. Importantly, reporting this case will add to the medical literature as it will raise awareness of the phenotypic manifestations of this disorder.Case presentationA 54-year-old Afro-Caribbean woman had a delayed diagnosis of homozygous sickle cell disease at 7 years of age by hemoglobin electrophoresis. The complications of sickle cell disease she experienced included bone pain, a chronic right leg ulcer, avascular necrosis of her left hip, and symptomatic cholelithiasis. This diagnosis was preceded by an earlier diagnosis of Waardenburg syndrome. The basis for the diagnosis of Waardenburg-Shah syndrome was the presence of pigmentary disturbances of her eyes (hypoplastic blue irides), congenital sensorineural hearing loss, and Hirschsprung’s disease. She was mute and complained of chronic constipation which required disimpaction on several occasions. She attended a school for the deaf and communicated via writing. A Duhamel procedure bypassing her rectum was performed at age 9. She died following an admission for acute chest syndrome complications.ConclusionSickle cell disease can be diagnosed by newborn screening but, as in this case, may have a delayed presentation. The delay in diagnosis of homozygous sickle cell disease illustrates that other genetic disorders should be considered in patients who already have a diagnosis of one Mendelian disorder but show atypical features.

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“…78,79 This neurocristopathy presents early in life with Waardenburg syndrome, central dysmyelination, Hirschsprung disease, and a hypomyelinating peripheral neuropathy. 78–85 Hypoplasia and markedly reduced axonal fibers were detected on sural nerve biopsy of an infant with Waardenburg–Shah syndrome. 82…”

Section: Malignancies and Reticulosesmentioning

confidence: 95%

Peripheral nerve disease secondary to systemic conditions in children

Wilmshurst

Ouvrier

Ryan

2019

Ther Adv Neurol Disord

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This review is an overview of systemic conditions that can be associated with peripheral nervous system dysfunction. Children may present with neuropathic symptoms for which, unless considered, a causative systemic condition may not be recognized. Similarly, some systemic conditions may be complicated by comorbid peripheral neuropathies, surveillance for which is indicated. The systemic conditions addressed in this review are critical illness polyneuropathy, chronic renal failure, endocrine disorders such as insulin-dependent diabetes mellitus and multiple endocrine neoplasia type 2b, vitamin deficiency states, malignancies and reticuloses, sickle cell disease, neurofibromatosis, connective tissue disorders, bowel dysmotility and enteropathy, and sarcoidosis. In some disorders presymptomatic screening should be undertaken, while in others there is no benefit from early detection of neuropathy. In children with idiopathic peripheral neuropathies, systemic disorders such as celiac disease should be actively excluded. While management is predominantly focused on symptomatic care through pain control and rehabilitation, some neuropathies improve with effective control of the underlying etiology and in a small proportion a more targeted approach is possible. In conclusion, peripheral neuropathies can be associated with a diverse range of medical conditions and unless actively considered may not be recognized and inadequately managed.

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Shah-Waardenburg syndrome

Cited by 15 publications

References 13 publications

Waardenburg syndrome in childhood deafness in Cameroon

Waardenburg syndrome in childhood deafness in Cameroon

The additional genetic diagnosis of homozygous sickle cell disease in a patient with Waardenburg-Shah syndrome: a case report

Peripheral nerve disease secondary to systemic conditions in children

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