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Lowe syndrome: general problems in a female patient
O Donzelli1, M L Nanni, S Terzi
1Clinica Ortopedica, Università, Bologna.
La Chirurgia Degli Organi Di Movimento
|July 1, 1993
Summary
Lowe syndrome is a rare genetic disorder affecting multiple systems. This case study highlights its ocular, neurological, renal, and musculoskeletal manifestations, particularly knee deformities from femur fractures.
Area of Science:
- Genetics
- Pediatrics
- Clinical Medicine
Background:
- Lowe syndrome is a rare X-linked disorder.
- It affects multiple organ systems including the eyes, brain, kidneys, and skeleton.
- Clinical presentation varies, necessitating comprehensive patient evaluation.
Observation:
- A clinical case of a patient with Lowe syndrome is presented.
- The case details ocular, neurological, renal, and musculoskeletal abnormalities.
- Specific attention is given to axial knee deformity secondary to femur fracture.
Findings:
- The patient exhibited typical manifestations of Lowe syndrome.
- Spontaneous femur fractures leading to knee deformities are a significant concern.
- Multisystem involvement requires careful management of associated complications.
Implications:
- Understanding Lowe syndrome's diverse clinical spectrum is crucial for diagnosis and management.
- Early identification and intervention for skeletal complications like femur fractures can prevent long-term morbidity.
- This case underscores the importance of a multidisciplinary approach in managing rare genetic disorders.