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Haberland syndrome with bilateral ocular involvement
F Zamorano Martín1, M García Lorente1, C Rocha de Lossada2
1Servicio de Oftalmología, Hospital Regional Universitario de Málaga, Málaga, España.
Archivos De La Sociedad Espanola De Oftalmologia
|August 31, 2020
Summary
Haberland syndrome, a rare encephalocutaneous lipomatosis, affects skin, eyes, and the central nervous system. This report details a case with significant bilateral ocular findings like palpebral coloboma and choristomas.
Area of Science:
- Neurology
- Ophthalmology
- Genetics
Background:
- Haberland syndrome, also known as encephalocutaneous lipomatosis, is an extremely rare genetic disorder.
- Characterized by congenital anomalies affecting the skin, central nervous system, and eyes.
- Fewer than 60 cases have been documented since its initial description in 1970.
Observation:
- This report presents a case of a 14-week-old male infant.
- The patient exhibited classic features of Haberland syndrome.
- Significant bilateral ocular manifestations were noted, including palpebral coloboma and choristomas.
Findings:
- The diagnosis of Haberland syndrome was confirmed in the infant.
- The ocular findings of palpebral coloboma and choristomas represent key features of the syndrome's presentation.
- This case contributes to the limited existing literature on encephalocutaneous lipomatosis.
Implications:
- Highlights the importance of thorough ophthalmological examination in suspected cases of Haberland syndrome.
- Further research into the genetic basis and phenotypic variability of Haberland syndrome is warranted.
- Understanding these rare conditions aids in early diagnosis and management of affected individuals.
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