Stručni rad
Case report of a girl with Laurence-Moon-Bardet-Biedl syndrome
Jasmin Nikšić
; Specijalna bolnica za medicinsku rehabilitaciju, Varaždinske Toplice
Valentina Matijević
; Klinički bolnički centar Sestre milosrdnice Zagreb, Medicinski fakultet Osijek
Josipa Marić Sabadoš
; Klinički bolnički centar Sestre milosrdnice Zagreb
Sažetak
Bardet-Biedl syndrome shows significant overlap with a disorder called Laurence-Moon syndrome. Laurence-Moon syndrome (LMS) is characterized by progressive neurological, ophthalmologic and endocrine manifestations leading to severe disability. Neurological manifestations include intellectual disability and ataxia that lead to progressive spastic paraplegia. (1) Bardet-Biedl syndrome is a genetic multisystem disorder characterized by deterioration of cells that receive light stimuli in the retina of the eye, an extra toe (polydactyly),
disproportionately distributed fatty tissues of the abdomen and thorax (obesity of the middle part of the body), reducing the size and function of the gonads (testes), hypogonadism in men, abnormalities and learning disabilities. (2) In most cases, Bardet-Biedl syndrome is inherited as an autosomal recessive. We report of a girl with the Laurence-Moon-Bardet-Biedl syndrome (LMBB) which was diagnosed by a neuropediatrician at the age of 17 months. During hospitalization at the neuropediatrics ward a physiatrist was consulted, who confirmed a neuromotor disorder, and the child was indicated for intense stimulation of neuromotor development at the Department of Children's Rehabilitation of the “Sestre milosrdnice” Hospital. The treatment of the Bardet-Biedl syndrome is directed toward specific symptoms, and therefore requires a multidisciplinary approach by professionals like neuropediatricians, physiatrists, orthopedic surgeons, cardiologists, dentists, speech therapists, audiologists, ophthalmologists and nephrologists.
Ključne riječi
Bardet-Biedl; Laurence-Moon; neuromotor deviation; multidisciplinary approach
Hrčak ID:
234904
URI
Datum izdavanja:
20.10.2017.
Posjeta: 2.118 *