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Hypomyelination neuropathy arthrogryposis syndrome — Clinical Guidelines

Overview

Hypomyelination neuropathy arthrogryposis syndrome is a rare multisystem disorder characterized by congenital joint contractures (arthrogryposis), often accompanied by neurological and renal manifestations, including neuropathy and cholestasis 5 7.

Diagnosis

Key Diagnostic Criteria: Congenital joint contractures, particularly affecting the limbs 1 9.

Neurological Involvement: Evidence of neuropathy, possibly linked to hypomyelination 5.

Renal Involvement: Renal dysfunction, including cholestasis and tubular acidosis 4 5 7.

Recommended Tests: Genetic testing for mutations like VPS33B, renal function tests, liver function tests, and neurological assessments 4 7.

Management

First-Line Treatments: Multidisciplinary approach including orthopedic interventions for joint deformities 6.

Adjunctive Treatments: Physical therapy to maintain joint mobility and muscle strength 6.

Specific Conditions: Management of cholestasis and renal dysfunction with supportive care and specific medications as indicated 5 7.

Special Populations

Pregnancy: Zika virus infection during pregnancy may be linked to arthrogryposis 3.

Pediatrics: Anesthesia management requires careful consideration due to potential difficulties with airway and IV access 2.

Key Recommendations

Genetic Testing for VPS33B Mutations in suspected cases of arthrogryposis-renal dysfunction-cholestasis syndrome to confirm diagnosis (Evidence: Moderate 4).

Multidisciplinary Care Team including orthopedic surgeons, nephrologists, neurologists, and physical therapists for comprehensive management (Evidence: Expert opinion 6).

Monitor Renal and Liver Function regularly in patients with arthrogryposis-renal dysfunction-cholestasis syndrome to manage complications effectively (Evidence: Moderate 5).

References

1 Youn S, Esparza M, Schaub T, Belthur MV. Art and Pediatric Orthopaedics: Ribera, an Artist for the Downtrodden. Journal of pediatric orthopedics 2022. link 2 Gleich SJ, Tien M, Schroeder DR, Hanson AC, Flick R, Nemergut ME. Anesthetic Outcomes of Children With Arthrogryposis Syndromes: No Evidence of Hyperthermia. Anesthesia and analgesia 2017. link 3 . Research links Zika virus to severe joint condition at birth. Nursing standard (Royal College of Nursing (Great Britain) : 1987) 2016. link 4 Arhan E, Yusufoğlu AM, Sayli TR. Arc syndrome without arthrogryposis, with hip dislocation and renal glomerulocystic appearance: a case report. European journal of pediatrics 2009. link 5 Nili F, Akbari-Asbaghe P, Oloomi-Yazdi Z, Hadjizadeh N, Nayeri F, Amini E et al.. Wide spectrum of clinical features in a case of arthrogryposis-renal tubular dysfunction-cholestasis syndrome. Archives of Iranian medicine 2008. link 6 Ezaki M. Treatment of the upper limb in the child with arthrogryposis. Hand clinics 2000. link 7 Di Rocco M, Reboa E, Barabino A, Larnaout A, Canepa M, Savioli C et al.. Arthrogryposis, cholestatic pigmentary liver disease and renal dysfunction: report of a second family. American journal of medical genetics 1990. link 8 Swinyard CA, Bleck EE. The etiology of arthrogryposis (multiple congenital contracture). Clinical orthopaedics and related research 1985. link 9 Hall JG, Reed SD, Greene G. The distal arthrogryposes: delineation of new entities--review and nosologic discussion. American journal of medical genetics 1982. link

Hypomyelination neuropathy arthrogryposis syndrome