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Melnick- needles osteodysplasty presenting with quadriparesis.
S K Bandyopadhyay1, J Ghosal, Nandini Chakrabarti
1Department of Medicine, Nil Ratan Sircar Medical College and Hospital, 138, A J C Bose Road, Kolkata 700 014.
The Journal of the Association of Physicians of India
|June 28, 2006
Summary
Melnick-Needles syndrome, a rare bone dysplasia, typically presents with distinct facial features and bone abnormalities. This report details the first case in Eastern India of an adolescent male with this condition, highlighting cranio-vertebral anomalies and spastic quadriparesis.
Area of Science:
- Genetics and Molecular Biology
- Orthopedics
- Pediatrics
Background:
- Melnick-Needles syndrome, also known as osteodysplasty, is a rare, monogenic, heritable bone dysplasia.
- It is characterized by a typical facial appearance and specific radiological findings.
- Fewer than 70 cases have been documented globally, with most being sporadic.
Observation:
- This study presents the first documented case of Melnick-Needles syndrome in Eastern India.
- The patient is an adolescent male diagnosed at 13 years of age.
- The case involves significant cranio-vertebral junction anomalies.
Findings:
- The patient presented with spastic quadriparesis, a neurological complication.
- Radiological findings consistent with Melnick-Needles syndrome were observed.
- The cranio-vertebral junction anomalies likely contributed to the neurological presentation.
Implications:
- This case expands the geographical reporting of Melnick-Needles syndrome.
- It underscores the potential for severe neurological complications, such as spastic quadriparesis, in affected individuals.
- Highlights the importance of early diagnosis and management of cranio-vertebral anomalies in bone dysplasias.