Severe infantile axonal neuropathy with respiratory failure

Wilmshurst, Jo M.; Bye, Ann; Rittey, Chris; Adams, Coleen; Hahn, Angelika F.; Ramsay, David A.; Pamphlett, Roger; Pollard, John D.; Ouvrier, Robert

doi:10.1002/mus.1067

Cited by 32 publications

(23 citation statements)

References 28 publications

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“…However, the disease severity in SMARD1 may be variable, and juvenile onset of respiratory distress [12][13][14][15] with survival up to 20 years has been reported [14,16]. At the mild end of the IGHMBP2 mutation disease spectrum, patients present with CMT2S, a sensorimotor axonal polyneuropathy, usually with less pronounced neurophysiological changes compared to SMARD1, relatively spared respiratory function, and longer survival [1,15,17].…”

Section: Page 3 Of 18mentioning

confidence: 95%

Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2

Pedurupillay

Amundsen

Barøy

et al. 2016

Neuromuscular Disorders

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Biallelic mutations in IGHMBP2 cause spinal muscular atrophy with respiratory distress type 1 (SMARD1) or Charcot-Marie-Tooth type 2S (CMT2S). We report three families variably affected by IGHMBP2 mutations. Patient 1, an 8-year-old boy with two homozygous variants: c.2T>C and c.861C>G, was wheelchair bound due to sensorimotor axonal neuropathy and chronic respiratory failure. Patient 2 and his younger sister, Patient 3, had compound heterozygous variants: c.983_987delAAGAA and c.1478C>T. However, clinical phenotypes differed markedly as the elder with sensorimotor axonal neuropathy had still unaffected respiratory function at 4.5 years, whereas the younger presented as infantile spinal muscular atrophy and died from relentless respiratory failure at 11 months. Patient 4, a 6-year-old girl homozygous for IGHMBP2 c.449+1G>T documented to result in two aberrant transcripts, was wheelchair dependent due to axonal polyneuropathy. The clinical presentation in Patients 1 and 3 were consistent with SMARD1, whereas Patients 2 and 4 were in agreement with CMT2S.

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Section: Page 3 Of 18mentioning

confidence: 95%

Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2

Pedurupillay

Amundsen

Barøy

et al. 2016

Neuromuscular Disorders

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“…Sensory and autonomic nerve involvement can occur, leading to reduced pain perception, excessive sweating, constipation, cardiac arrhythmias and constipation. Fatty pads over the phalanges are an additional clinical marker [62,64]. Peripheral electrophysiology must be performed in a center skilled in performing such studies.…”

Section: Where Neurophysiology Is Availablementioning

confidence: 99%

“…Patients with spinal muscular atrophy with respiratory distress typically have absent sensory responses and compound muscle action potentials are absent or markedly reduced. Electromyography detects denervation [17,62,63]. The patients often present with intrauterine growth retardation, diaphragmatic dysfunction (becoming evident between 1 and 6 months of age), a weak cry, inspiratory stridor and earlier noted foot deformities.…”

Section: Where Neurophysiology Is Availablementioning

confidence: 99%

Diagnosis and Management of Pediatric Peripheral Neuropathies In Resource-Poor Settings

Wilmshurst

2013

Future Neurol.

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The diagnosis of a peripheral neuropathy in a child who resides in the majority of resource-poor settings is based on the history taken and the clinical examination. The majority of children, unless they demonstrate additional clinical markers, will lack a more definitive diagnosis beyond the label ‘peripheral neuropathy’. The treatable, typically acquired conditions, which are prevalent in these settings, are the priority to identify. This would include neuroinfections, neuroinflammation, toxins and vitamin deficiencies. The management of children with peripheral neuropathies in resource-poor settings must be approached in a different manner to that of more ‘resource-equipped’ settings. Secondary or tertiary centers are scarce, often significant distances away from the patient, and this leads to long delays before access is possible. Most children present to primary healthcare settings and are seen by practitioners with little training in the features suggestive of a peripheral neuropathy. As such, basic aids to assist the healthcare worker in the early recognition and interventions of a child with a peripheral neuropathy are important. In addition, there must be recognition of the child with a rapidly progressive neuropathy where a life-threatening condition is present, and urgent referral to a tertiary setting made wherever possible.

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“…Cardiac changes were described in the nmd mouse, an experimental model of human SMARD1 [17] . Finally, our pathological data suggest that further studies are required on liver and cardiac pathology in patients aff ected by SMARD1, in order to reach a better understanding of the function of the protein IGHMBP2 [18] in diff erent organs.…”

Section: Analysis Of the Ighmbp2 Genementioning

confidence: 99%

A New Nonsense Mutation of the IGHMBP2 Gene Responsible for the First Case of SMARD1 in a Sardinian Patient with Giant Cell Hepatitis

Fanos¹,

Cuccu²,

Nemolato³

et al. 2010

Neuropediatrics

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We describe the case of a Sardinian female child affected by SMARD1, a genetic composite heterozygote, in whom a new nonsense mutation (R788X) was found. A sister was affected by generalized muscular hypotonia and died from respiratory insufficiency at the age of 9 months, before a diagnostic definition had been formulated. Our patient died at 6 months due to respiratory insufficiency. At autopsy some differences with previous published cases were observed. In fact, our case is to the best of our knowledge the first report of giant cell hepatitis and myocarditis in SMARD1-affected patients, although this could be a chance association.

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Severe infantile axonal neuropathy with respiratory failure

Cited by 32 publications

References 28 publications

Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2

Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2

Diagnosis and Management of Pediatric Peripheral Neuropathies In Resource-Poor Settings

A New Nonsense Mutation of the IGHMBP2 Gene Responsible for the First Case of SMARD1 in a Sardinian Patient with Giant Cell Hepatitis

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