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Case Series

Published: Jul 07, 2025 | DOI: 10.24911/ejmcr.9-2206

Challenges of diagnosis and management of Hunter's Syndrome in a resource-constrained setting: A case series of siblings in Nigeria

Authors: Dr Amalachukwu Okwukweka Odita , Dr Ekene Fidelis Enema , Prof Ngozi Ojinnaka

Article Info

Authors

Dr Amalachukwu Okwukweka Odita

Department of Paediatrics, Nnamdi Azikiwe University, Nnewi Campus, Nigeria

ORCID

Dr Ekene Fidelis Enema

Mango Specialist children Hospital, Onitsha, Nigeria

Prof Ngozi Ojinnaka

Department of Paediatrics, University of Nigeria, Nsukka

Publication History

Received: April 27, 2025

Accepted: June 23, 2025

Published: July 07, 2025

Abstract

Hunter syndrome (MPS-II) is a rare X-linked lysosomal storage disorder caused by iduronate-2-sulfatase deficiency, resulting in glycosaminoglycan (GAG) accumulation and multisystem dysfunction. It predominantly affects males, leading to skeletal deformities, neurocognitive decline, organomegaly, and distinctive facial features. The impact of Hunter syndrome in Nigeria and resource-limited settings is far-reaching due to diagnostic obstacles, underreporting, and limited access to specialized care. This report elucidates the clinical presentation, diagnostic difficulties, and management of two siblings diagnosed with Hunter syndrome in Southeast Nigeria years after the onset of symptoms. Their clinical histories, physical examinations, laboratory investigations, and treatment modalities were systematically documented and analyzed. Both siblings displayed characteristic clinical features of Hunter syndrome: coarse facial features, macroglossia, skeletal deformities, hepatosplenomegaly, and developmental regression. The older sibling had a more severe expression of the disorder. Urinary GAG levels, particularly heparan sulfate, were elevated with significantly reduced iduronate-2-sulfatase levels. Cranial imaging showed cerebral atrophy, hydrocephalus, and multi-suture synostosis. With financial constraints, confirmatory genetic testing, enzyme replacement therapy (ERT), and gene therapy were not accessed, leading to symptomatic management instead. Hunter syndrome is underdiagnosed and underreported in Nigeria, primarily due to insufficient clinical awareness, lack of newborn screening, and financial barriers to diagnostic and therapeutic access. This case series highlights the urgent necessity for enhanced awareness among healthcare providers, early identification of clinical features, and advocacy for accessible genetic testing and ERT. International collaborations are essential for optimizing care and improving outcomes for individuals affected by rare genetic disorders in low-resource environments.

Keywords: Hunter syndrome, Mucopolysaccharidosis type II, Low-resource setting, Enzyme replacement therapy, Case series

Pubmed Style

Dr Amalachukwu Okwukweka Odita, Dr Ekene Fidelis Enema, Prof Ngozi Ojinnaka. Challenges of diagnosis and management of Hunter's Syndrome in a resource-constrained setting: A case series of siblings in Nigeria. EJMCR. 2025; 07 (July 2025): -. doi:10.24911/ejmcr.9-2206

Web Style

Dr Amalachukwu Okwukweka Odita, Dr Ekene Fidelis Enema, Prof Ngozi Ojinnaka. Challenges of diagnosis and management of Hunter's Syndrome in a resource-constrained setting: A case series of siblings in Nigeria. https://ejmcr.com/index.php/articles/2206 [Access: July 17, 2025]. doi:10.24911/ejmcr.9-2206

AMA (American Medical Association) Style

Vancouver/ICMJE Style

Harvard Style

Dr Amalachukwu Okwukweka Odita, Dr Ekene Fidelis Enema, Prof Ngozi Ojinnaka (2025) Challenges of diagnosis and management of Hunter's Syndrome in a resource-constrained setting: A case series of siblings in Nigeria. EJMCR, 07 (July 2025): -. doi:10.24911/ejmcr.9-2206

Chicago Style

Dr Amalachukwu Okwukweka Odita, Dr Ekene Fidelis Enema, Prof Ngozi Ojinnaka. "Challenges of diagnosis and management of Hunter's Syndrome in a resource-constrained setting: A case series of siblings in Nigeria." 07 (2025), -. doi:10.24911/ejmcr.9-2206