Related Experiment Video
Updated: Jul 23, 2026
Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans
Published on: September 8, 2023
Multiple suture synostosis, macrocephaly, and intracranial hypertension in a child with alpha-D-mannosidase
P A Grabb1, A L Albright, B J Zitelli
1Department of Neurological Surgery, University of Pittsburgh School of Medicine, Pennsylvania.
Insights
A child with undiagnosed alpha-D-mannosidase deficiency developed increased intracranial pressure due to craniosynostosis and megaloencephaly. Surgical intervention relieved symptoms, highlighting the link between this rare lysosomal storage disease and neurological complications.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Lysosomal storage diseases (LSDs) are a group of rare genetic disorders.
- Alpha-D-mannosidase deficiency is a rare LSD affecting multiple organ systems.
- Craniosynostosis and megaloencephaly can cause increased intracranial pressure in children.
Observation:
- A 3-year-old boy presented with symptoms of increased intracranial pressure, including headaches and papilledema.
- Radiographic findings revealed multiple-suture craniosynostosis and megaloencephaly.
- The child had a previously undiagnosed lysosomal storage disease: alpha-D-mannosidase deficiency.
Findings:
- Surgical correction of multiple-suture craniosynostosis (synostectomies) was performed.
- Postoperatively, the patient's headaches and papilledema resolved.
- The child experienced a dramatic increase in physical activity after surgery.
Implications:
- This case highlights an unusual presentation of alpha-D-mannosidase deficiency.
- Early diagnosis and surgical management of craniosynostosis can effectively alleviate increased intracranial pressure in affected children.
- Understanding the interplay between LSDs, craniosynostosis, and increased intracranial pressure is crucial for pediatric neurological care.
Abstract:
The authors present an unusual case in which increased intracranial pressure developed because of multiple-suture craniosynostosis and megaloencephaly in a child with a previously undiagnosed lysosomal storage disease, alpha-D-mannosidase deficiency. This 3-year-old boy presented with a history of frequent naps, headaches, florid papilledema, enlarged head (> 95th percentile), elevated opening pressure by lumbar puncture, a "beaten copper" appearance on skull radiographs, and no hydrocephalus. Multiple synostectomies were performed. Postoperatively, the child's headaches and papilledema resolved and his level of physical activity increased dramatically. The authors discuss the paradoxical presentation of prematurely fused sutures and macrocrania in light of this lysosomal storage disease and its subsequent management.
More Related Videos
06:04Frontal Disconnection for Treating Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE) in the Frontal Lobe
Published on: August 16, 2024
08:03Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
Published on: November 4, 2025
