Intracranial tumor in a patient with mucopolysaccharidosis type 1 (Scheie syndrome): An extremely rare combination

Abstract

Scheie syndrome is a mild variant of mucopolysaccharidosis type I (MPS I), a rare group of lysosomal storage diseases that affect multiple organ systems. It is rarely associated with neoplasia. To the best of our knowledge, only a single case of mucopolysaccharidosis associated with a brain tumor has been reported, and it was nearly three decades ago. We present the case of a 10-year-old female with Scheie syndrome associated with a brain tumor. Physical and laboratory findings were suggestive of Scheie syndrome. A skeletal survey also revealed a spectrum of dysostosis multiplex supporting MPS. Children with MPS can have rapidly enlarging head sizes due to hydrocephalus, but our patient had several red flags that demanded further evaluation. A brain MRI revealed a mass in the fourth ventricle and a biopsy of the mass revealed pilocytic astrocytoma grade 1. Intraventricular pilocytic astrocytoma itself is a rare occurrence, accounting for only 4%-15.6 % of all pilocytic astrocytomas. Altered mucopolysaccharide metabolism can be involved in tumor pathogenesis, but the exact mechanism is unknown. Mucopolysaccharidoses, being a group of complicated disorders, are difficult to manage, and many symptoms can be missed in children due to intellectual disability. This case highlights the importance of suspecting brain tumors in children with mucopolysaccharidoses who present with signs and symptoms of increased intracranial pressure. Prompt diagnosis and management can save the child from dire neurological consequences.

Keywords: Copper-beaten skull; Dysostosis multiplex; Madelung deformity; Mucopolysaccharidosis; Oar/paddle-shaped ribs; Pilocytic astrocytoma; Schiei syndrome; Tumor.

Fig. 1

Copper-beaten caused by gyral impressions on the inner skull, possibly due to raised intracranial pressure caused by the tumor.

Fig. 2

Frontal and lateral projections of chest x-ray revealing widening of anterior ribs with tapered posterior ends representing oar/paddle shaped ribs.

Fig. 3

Pelvic x-ray showing widely flared both iliac bones with inferior tapering and poorly developed acetabular cavities with broader margins. Both femoral capital epiphysis appear smaller in size and displaced medially. Coxa vara noted on the right side.

Fig. 4

Both radii are shorter in length in relation to ulna with oblique angulation of distal part (Madelung deformity).

Fig. 5

Broad short bones of hands and feet with minimal proximal pointing of metacarpals and metatarsals predominantly 4th metacarpals.

Fig. 6

MRI brain with contrast showing well-circumscribed lobulated heterogeneous mass in the fourth ventricle.

Fig. 7

T1 weighted MRI brain showing lesion isointense to the adjacent cerebellum.

Fig. 8

T2 weighted MRI brain showing hyperintense lesion with areas of high signal cystic change.