Woodhouse-Sakati Syndrome

 


We were unfortunately unable to download the information for this disease from OMIM.



Prevalence of clinical parameters (%)








List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd)
Alopecia integumentary 100 % 17167799 2015-05-06
Hypogonadism reproductive 100 % 17167799 2015-05-06
Decreased serum IGF-1 circulatory 100 % 17167799 2015-05-06
Mental retardation nervous 91 % 17167799 2015-05-06
Hearing loss nervous 85 % 17167799 2015-05-06
Dystonia nervous 67 % 17167799 2015-05-06
Basal ganglia pathology nervous 53 % 17167799 2015-05-06
Leukodystrophy nervous 47 % 17167799 2015-05-06
Diabetes mellitus type 2 endocrine 38 % 17167799 2015-05-06
Diabetes mellitus type 1 endocrine 26 % 17167799 2015-05-06
Hypothyroidism endocrine 25 % 17167799 2015-05-06
Dysarthria nervous 4 % 17167799 2015-05-06



List of references:


Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1.
Abdulaziz Al-Semari, Saeed Bohlega,

We explored the manifestations of an autosomal-recessive multisystemic disorder in several Saudi families. Recognized causes of progressive extra-pyramidal disorder and white matter disease were excluded and the neurological, imaging, endocrine, and skin manifestations of this syndrome described. The onset of these symptoms in these patients began in early adolescence and progressed more rapidly in males. All affected patients had total or partial alopecia, clinical and chemical evidence of hypogonadism (low levels of estradiol and testosterone); females had clear evidence of hypogonadism (streak or absent ovaries), and some patients had diabetes mellitus and/or sensorineural deafness. The constant biochemical abnormality was the low IGF-1. The neurological manifestations included moderate to severe intellectual decline and abnormality of muscle tone and posture with choreo-athetoid and dystonic movements resulting in gait difficulty, dysarthria, difficulty swallowing, and scoliosis. The MRI of brain demonstrated white matter involving cerebellum, brain stem, and cerebral structures, as well as abnormal decreased signal intensity in the basal ganglia with involvement of the substantia nigra. We conclude that the association of hypogonadism, alopecia, and persistent low IGF-1 is a significant autosomal recessive syndrome; it is prevalent in Saudi Arabia. We also demonstrate that the progressive extra-pyramidal disorder, white matter disease, and abnormal signals of the basal ganglia are common features of this syndrome. Sensorineural deafness and diabetes mellitus were recognized features.

American journal of medical genetics. Part A - Jan 2007