PEDBASE.org - The Pediatric Database - Detailed information of LAURENCE-MOON SYNDROME

LAURENCE-MOON SYNDROME

DEFINITION:

A genetic disorder of unknown etiology characterized by progressive neurological, ophthalmologic, and endocrine manifestations resulting in a deteriorating handicapping condition.

EPIDEMIOLOGY:

incidence: rare
age of onset:
- birth (hypogenitalia)
risk factors:
- familial - autosomal recessive
  - chrom.#: ?
  - gene: ?
- M = F
- Arab population of Kuwait

PATHOGENESIS:

1. Background

first described by Laurence and Moon in 1866 and is a specific entity separate from the Bardet-Biedl Syndrome

2. Genetic Defect

genetic defect -> metabolic error -> failure of normal embryologic development -> progressive neurologic, ophthalmologic, and endocrine abnormalities

CLINICAL FEATURES:

1. Neurological Manifestations

present in childhood
mental retardation
ataxia -> progressive spastic paraplegia by early adulthood -> bedridden state

2. Ophthalmologic Manifestations

1. Retinitis Pigmentosa

retinal mottling due to thinning of the retina -> increased visibility of the choroid
retinal pigment accumulations progressing from the periphery to the central retina
progressive optic atrophy -> progressive visual loss -> blindness
prominent macular involvement in some cases
night blindness

3. Endocrine Manifestations

hypogenitalism present at birth
hypogonadotrophic hypogonadism noted postpubertal

INVESTIGATIONS:

1. Endocrine

1. Hypogonadotrophic Hypogonadism

decreased FSH, LH, estrogen, testosterone

MANAGEMENT:

1. Supportive

no treatment for underlying condition
multidisciplinary approach
- Paediatrics, Neurology, Ophthalmology, Endocrinology
- genetic counselling

2. Prognosis

a deteriorating, handicapping condition resulting in eventual blindness and loss of ambulation

Pediatric Database - LAURENCE-MOON SYNDROME

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