Diagnosis of the Combination of Immune Thrombocytopenia and Woodhouse-Sakati Syndrome

Mehmet Dagli¹, Ali Kutlucan^1, , Kemal Fidan¹, Leyla Kutlucan², Abdulkadir Basturk¹ and Suleyman Hilmi Ipekci¹

¹Department of Internal Medicine, Faculty of Medicine, Selcuk University, Konya, Turkey

²Department of Anesthesiology, Konya Training and Research Hospital, Konya, Turkey

Cite this paper

Mehmet Dagli, Ali Kutlucan, Kemal Fidan, Leyla Kutlucan, Abdulkadir Basturk and Suleyman Hilmi Ipekci. Diagnosis of the Combination of Immune Thrombocytopenia and Woodhouse-Sakati Syndrome. American Journal of Medical Case Reports. 2016; 4(3):108-110. doi: 10.12691/AJMCR-4-3-9

Abstract

Woodhouse-Sakati Syndrome (WSS) is a rare autosomal recessive syndrome characterized by sensorineural hearing loss, ECG ST-T changes, partial alopecia, hypogonadism, diabetes, and moderate mental retardation. A 23-year-old male patient was admitted to our hospital with complaints of purpura and petechial rashes. His platelet count was 3.04 x 10⁹/L and the peripheral blood smear was compatible with this count. No atypical cell was observed. He had mild mental retardation. He had hearing loss since childhood. Physical examination showed widespread petechiae and purpura on bilateral lower extremities. Significant growth retardation was detected and male pattern hair growth was less. In genital examination, bilateral testicles were small; penis length was 1 cm and it was 4 cm when elongated. T negativity was present in precordial derivations of ECG. He was diagnosed Immune thrombocytopenic purpura (ITP) and WSS according to these findings. In addition to ITP treatment with steroids, the combination of testosterone propionate and testosterone phenyl propionatewas also administered to him. Upon we observed that there was an increase in his platelet number, he was discharged from the hospital. WSS is a very rare disease. Different components of the syndrome have been reported in different patients.It is the first time in the literature that ITP is observedtogether with WSS in a male patient.

Keywords

woodhouse-sakati syndrome, immune thrombocytopenic purpura

Copyright

This work is licensed under a Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/

References

[1]	Nıcholas JY Woodhouse, Nadia A from the Departments of Medicine* and Pediatrics, King Faisal Specialist Hospital, Saudi Arabia. A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities. Journal of Medical Genetics 1983;20:216-9.
[2]	Agopiantz M, Corbonnois P, Sorlin A, Bonnet C, Klein M, Hubert N, Pascal-Vigneron V, Jonveaux P, Cuny T, Leheup B, Weryha G. Endocrine disorders in Woodhouse-Sakatisyndrome: a system aticreview of the literature. JEndocrinol Invest 2014; 37(1):1-7.
[3]	Alazami AM, Al-Saif A, Al-Semari A et al. Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. 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. Three siblings with Woodhouse-Sakati syndrome in an Indian family. Clinical Dysmorphology2008;17(1):57-60
[6]	Oerter KE, Friedman TC, Anderson HC, Cassorla FG. Familial syndrome of endocrine and neuroectodermalabnormalities. Am J MedGenet1992;44(4):487-91.
[7]	Devriendt K, Legius E, Fryns JP. Progressive extrapyramidal disorder with primary hypogonadismandalopecia in sibs: a newsyndrome? Am J MedGenet1996;62(1):54-7.
[8]	Medica I, Sepcic´ J, Peterlin B. Woodhouse-Sakatisyndrome: case report and symptomsreview. GenetCouns2007; 18(2):227-31.
[9]	Schneider SA, Bhatia KP.Dystonia in the Woodhouse-Sakatisyndrome: a new family and literaturereview. Mov Disord 2008; 23(4):592-6.
[10]	Rachmiel M, Bistritzer T, Hershkoviz E, Khahil A, Epstein O, Parvari R. Woodhouse-Sakatisyndrome in an Israeli-Arab family presenting with youth-onset diabetes mellitus and delayed puberty. HormResPaediatr. 2011;75(5):362-6.
[11]	Ben-Omran T, Ali R, Almureikhi M et al. Phenotypicheterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene. Am J MedGenet A 2011; 155A(11):2647-53.
[12]	Habib R, Basit S, Khan S, Khan MN, Ahmad W. A novelsplice site mutation in gene C2orf37 underlying Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistaniorigin. Gene 2011;490(1-2):26-31.
[13]	Steindl K, Alazami AM, Bhatia KP et al. A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome. ClinGenet2010;78(6):594-7.