The proband described here has the above-mentioned features and presented with idiopathic thrombocytopenic purpura not reported before. Phenotypic variability is present in the three affected siblings. [ncbi.nlm.nih.gov]

In the second part of this review, the particular NBIA disorders are presented in details. [pubtransformer.com]

• Fatigue

  Major clinical signs include weight loss (often accompanied by an increased appetite), anxiety, intolerance to heat, fatigue, hair loss, weakness, hyperactivity, irritability, apathy, depression, polyuria, polydipsia, delirium, and sweating. [howlingpixel.com]

• Nausea

  Additionally, patients may present with a variety of symptoms such as palpitations and arrhythmias (notably atrial fibrillation), shortness of breath (dyspnea), loss of libido, nausea, vomiting, and diarrhea. [howlingpixel.com]

  Chronic diarrhea, including steatorrhea (fatty stools) Pain in the esophagus, especially between and after meals at night Nausea Wheezing Vomiting blood Malnourishment Loss of appetite Gastrinomas may occur as single tumors or as multiple small tumors [maria-online.com]

• Failure to Thrive

  […] to thrive-kyphoscoliosis Auriculoosteodysplasia Aplasia cutis congenita of limbs recessive Epidermolysis bullosa simplex, Dowling-Meara type Waardenburg syndrome type 3 Antecubital pterygium Osteoporosis-pseudoglioma syndrome Hypomelanosis of Ito Porokeratosis [checkrare.com]

• Abdominal Pain

  Zollinger-Ellison syndrome: Signs and symptoms Patients with Zollinger–Ellison syndrome may experience abdominal pain and diarrhea. [maria-online.com]

• Loss of Eyebrow Hair

  […] of eyebrow hair Endocrine Features: diabetes mellitus hypergonadotropic hypogonadism hypogonadotropic hypergonadism failure of secondary sexual development Genitourinary: hypogonadism Genitourinary External Genitalia Male: small penis Head And Neck Ears [malacards.org]

• Hearing Impairment

  The syndrome is characterized by alopecia, mental retardation, hypogonadism, diabetes mellitus, hearing impairment, ECG changes, and by autosomal recessive inheritance. [ncbi.nlm.nih.gov]

  @article{8509666, abstract {Woodhouse Sakati syndrome (WSS, MIM 241080) is a rare autosomal recessive genetic condition characterized by alopecia, hypogonadism, hearing impairment, diabetes mellitus, learning disabilities and extrapydamidal manifestations [biblio.ugent.be]

  impairment 0000407 Sparse hair 0008070 Showing of 38 Last updated: 5/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. [rarediseases.info.nih.gov]

• Alopecia

  Disorder, Progressive, With Primary Hypogonadism, Mental Retardation, and Alopecia Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, and Extrapyramidal Syndrome edit English Woodhouse–Sakati syndrome Woodhouse-Sakati syndrome is [wikidata.org]

  The syndrome is characterized by alopecia, hypogonadism, hypothyroidism, hearing loss, mental retardation and diabetes mellitus. Electrocardiogram anomalies have also been reported. [eurobuch.com]

  Woodhouse-Sakati syndrome consists of alopecia, hypogonadism, diabetes mellitus, mild mental retardation, sensorineural deafness and ECG abnormalities. [ncbi.nlm.nih.gov]

  Treatments for the various forms of alopecia have limited success. The cause of alopecia is unknown; the hair usually grows back. Thomas developed alopecia when she was six, losing chunks of her hair. [diki.pl]

• Purpura

  The proband described here has the above-mentioned features and presented with idiopathic thrombocytopenic purpura not reported before. Phenotypic variability is present in the three affected siblings. [ncbi.nlm.nih.gov]

  Keywords: woodhouse-sakati syndrome immune thrombocytopenic purpura This work is licensed under a Creative Commons Attribution 4.0 International License. [sciepub.com]

  Keywords: woodhouse-sakati syndrome, immune thrombocytopenic purpura Copyright 2016 Science and Education Publishing. All Rights Reserved. 1. [pubs.sciepub.com]

• Sparse Hair

  hair 0008070 Showing of 38 Last updated: 5/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. [rarediseases.info.nih.gov]

  hair RHYNS syndrome Diabetes insipidus nephrogenic mental retardation and intracerebral calcification Propionic acidemia PAGOD syndrome Cone-rod dystrophy 3 Stickler syndrome Ostium secundum atrial septal defect Autosomal dominant cerebellar ataxia, [checkrare.com]

  hair 31 HP:0008070 43 hypergonadotropic hypogonadism 31 HP:0000815 44 growth hormone deficiency 58 Very frequent (99-80%) 45 decreased testosterone in males 58 Very frequent (99-80%) 46 decreased serum insulin-like growth factor 1 31 HP:0030353 47 increased [malacards.org]

• Ulcer

  The increase in acidity contributes to the development of peptic ulcers in the stomach, duodenum (first portion of the small bowel) and occasionally the jejunum (second portion of the small bowel)-- the last of which is an 'atypical' ulcer. [maria-online.com]

  Velikonja T Results of 200 stapled hemorrhoidectomies 2003 Omejc M ; Omejc H ; Štor Z ASA score as an independent prognostic factor in patients with colorectal cancer 2003 Repše S ; Jelenc F ; Čalič M ; Žakelj B ; Omejc M ; Juvan R Surgical treatment of ulcerative [ricinus2.mf.uni-lj.si]

• Prominent Nasal Root

  Additional manifestations may include sensorineural deafness, flattened T waves on ECG, seizures, sensory polyneuropathy, dysarthria, various craniofacial abnormalities (high forehead, flat occiput, triangular face, prominent nasal root, hypertelorism [orpha.net]

  Other manifestations are very diverse: sensorineural hearing loss, T waves flattened ECG, convulsions, sensory polyneuropathy, a dysarthria ( dysphagia), various craniofacial anomalies (high forehead, flattened occiput, triangular face, prominent nasal [sites.uclouvain.be]

  She had dysmorphic facial features including a triangular shape with a large forehead, sparse eyebrows and eyelashes, alopecia predominant in the fronto-temporal region of the scalp, hypertelorism, large ears, prominent nasal root, precocious skin aging [cags.org.ae]

• Onset in Adolescence

  Movement disorders mainly consist of dystonia and chorea of the limbs with onset in adolescence. Facial muscles are usually spared, but dysarthria is common. Pyramidal features and peripheral abnormalities are inconsistent features. [ncbi.nlm.nih.gov]

  Usual onset during adolescence. [sites.uclouvain.be]

Complete biochemical workup was done, which was non-contributory. Imaging Findings Imaging Technique: MRI Brain was done in a 3T MRI. Standard Brain Protocol with TIWI, T2WI, FLAIR, DWI and SWI images obtained. [eurorad.org]

Endocri-nology workup revealed a low estradiol level of levels and a low testosterone level of 1.85 nmol/l (reference range:3.4741.64). The IGF-1 level was also low at 64 ng/ml (referencerange: 187.9400). [docslide.com.br]

Treatment There is no known treatment for the syndrome but there are treatments for the symptoms as they manifest. [medigest.uk]

Treatment : How to Treat "woodhouse sakati syndrome"? There is no known treatment for the syndrome but there are treatments for the symptoms as they manifest. Causes It is a mental condition that is inherited from the parent to child. [signssymptoms.org]

Woodhouse Sakati Syndrome Treatment There is no known treatment for the syndrome but there are treatments for the symptoms as they manifest. [illnessopedia.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

When it comes to drug treatments for androgenetic alopecia, women are in a difficult position. Androgenic alopecia, or male pattern hair loss, is a common cause of concern to men. [diki.pl]

Prognosis - Woodhouse Sakati syndrome Not supplied. Treatment - Woodhouse Sakati syndrome Not supplied. Resources - Woodhouse Sakati syndrome [checkorphan.org]

Am j Hum Genet2008;83(6):684-91. [ 4 ] Çekdemir D, DizKüçükkaya R.Treatment and Prognosis of Immune Thrombocytopenia. Turkiye Klinikleri J Hematol-Special Topics 2014; 7 (2):72-9. [ 5 ] Koshy G, Danda S, Thomas N, Mathews V, Viswanathan V. [sciepub.com]

Genetic testing allowed a more accurate prognosis and a precise genetic counseling for our patient's family. [onlinelibrary.wiley.com]

[…] spasms, parkinsonism neuropsychiatric optic atrophy retinal degeneration Radiographic features will vary among the various entities, but can broadly be thought of as 3 : basal ganglia signal abnormalities cerebellar and cerebral atrophy Treatment and prognosis [radiopaedia.org]

Etiology Woodhouse-Sakati syndrome is associated with mutations in the DCAF17 gene (2q31.1), encoding a nucleolar protein of unknown function. Genetic counseling The disease is transmitted in an autosomal recessive manner. [orpha.net]

Deafness-dystonia syndrome is etiologically and clinically heterogeneous, and most patients have an unknown cause. [pubtransformer.com]

Anamnesis was asked to his relatives and there was no medical history which can explain the etiology of thrombocytopenia. [pubs.sciepub.com]

(Etiology) Woodhouse-Sakati Syndrome is associated with mutations in the DCAF17 gene (2q31.1), encoding a nucleolar protein of unknown function The disorder is transmitted in an autosomal recessive manner (Source: Woodhouse-Sakati Syndrome ; Orphanet, [dovemed.com]

Summary Epidemiology Approximately 30 patients from consanguineous Middle Eastern families, together with one Caucasian woman and three sibs from an Indian family, have been reported so far. Clinical description The onset is usually in adolescence. [orpha.net]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.com]

Epidemiology Approximately 30 patients from consanguineous Middle Eastern families, together with one Caucasian woman and three sibs from an Indian family, have been reported so far. Clinical description The onset is usually in adolescence. [rarediseases.info.nih.gov]

[…] dystrophy (NAD) aceruloplasminaemia COASY protein-associated neurodegeneration (COPAN) fatty acid hydroxylase-associated neurodegeneration (FAHN) Kufor-Rakeb syndrome neuroferritinopathy Woodhouse-Sakati syndrome No single demographic is affected, and epidemiology [radiopaedia.org]

The pathophysiology of WSS remains unclear. [ncbi.nlm.nih.gov]

Further studies for better understanding of the disease pathophysiology is required. References : 1. Bohlega SA, Alkuraya FS. Woodhouse-Sakati Syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews . [mdsabstracts.org]

But recognizing the phenomenology and understanding the pathophysiology are essential to ensure appropriate treatment. Hyperkinetic Movement Disorders provides a clinical pathway for effective diagnosis and management of these disorders. [books.google.com]

The pathophysiology of WSS remains unclear. https://hal.univ-lorraine.fr/hal-01688744 Contributeur : Ngere Ul <> Soumis le : vendredi 19 janvier 2018 - 16:26:21 Dernière modification le : mardi 13 octobre 2020 - 10:46:53 [hal.univ-lorraine.fr]

Prevention - Woodhouse Sakati syndrome Not supplied. Diagnosis - Woodhouse Sakati syndrome Not supplied. Prognosis - Woodhouse Sakati syndrome Not supplied. Treatment - Woodhouse Sakati syndrome Not supplied. Resources - Woodhouse Sakati syndrome [checkorphan.org]

How can Woodhouse-Sakati Syndrome be Prevented? Currently, Woodhouse-Sakati Syndrome may not be preventable, since it is a genetic disorder. [dovemed.com]

The basis of treatment is still prevention in chronic kidney failure, starting medication and dietary restrictions long before dialysis treatment is initiated. [howlingpixel.com]

C-peptide helps to prevent neuropathy and other vascular deterioration related symptoms of diabetes mellitus, a practitioner would measure the levels of C-peptide to obtain an estimate for the viable beta cell mass. [wikivisually.com]

Iodine deficiency is the most common preventable cause of brain damage worldwide. [ 6 ] Although iodine is found in many foods, it is not universally present in all soils in adequate amounts. [enacademic.com]