Multisystem Involvement in a Pediatric Patient With Suspected Mucopolysaccharidosis: A Case Report

Abstract

Mucopolysaccharidoses (MPS) are a group of inherited metabolic disorders characterized by the deficiency or malfunction of lysosomal enzymes responsible for glycosaminoglycan (GAG) degradation. We present the case of an 11-year-old male with a history of calcified mitral valve, rheumatic heart disease, and growth hormone deficiency who presented with dyspnea on exertion. Physical examination revealed dysmorphic facial features, short stature, and suboptimal weight and height parameters. Magnetic resonance imaging (MRI) of the brain showed cystic lesions in the white matter and corpus callosum, hydrocephalus, and cerebral atrophy, suggestive of MPS. This case highlights the importance of considering MPS in the differential diagnosis of patients with multisystemic involvement and the utility of advanced imaging techniques like MRI in guiding diagnosis and management. A multidisciplinary approach involving cardiology, endocrinology, genetics, and neurology is crucial for comprehensive management and improving patient outcomes. Early diagnosis and intervention are essential in optimizing the quality of life for patients with MPS.

Keywords: growth hormone deficiency; metabolic disorder; mri; mucopolysaccharidoses; multisystem involvement; pediatric patient.

Figure 1. Physical examination of the patient showing a broad forehead, chubby cheeks, and a short neck

Figure 2. (A) T2WI, (B) T1WI, and (C) FLAIR: axial section of the brain showing multiple altered signal intensity areas mostly cystic, noted diffusely in the subcortical and deep periventricular white matter and corpus callosum appearing hyperintense on T2 and hypointense on T1 and FLAIR

T2WI: T2-weighted imaging; T1WI: T1-weighted imaging; FLAIR: fluid-attenuated inversion recovery

Figure 3. (A and B) Axial section of brain DWI and ADC sequence showing multiple altered signal intensity showing no diffusion restriction on DWI with corresponding low signal intensity on ADC

DWI: diffusion-weighted imaging; ADC: apparent diffusion coefficient

Figure 4. (A) Sagittal section of brain T2WI sequence showing multiple altered signal intensity areas mostly cystic, noted diffusely in the corpus callosum appearing hyperintense on T2WI. (B) Coronal section of brain T2WI showing a hyperintense cystic lesion in the body of the corpus callosum and dilatation of the ventricular system with an Evans index of 0.41 s/o ventriculomegaly

T2WI: T2-weighted imaging

Figure 5. Sagittal section of brain T2WI sequence showing J-shaped sella turcica

T2WI: T2-weighted imaging