Abstract
Incontinentia pigmenti (IP), X-kromozomuna bağlı dominant geçişli, ektoderm ve mezoderm kaynaklı organ tutulumu görülen; başta merkezi sinir sistemi olmak üzere cilt, göz ve dişleri etkileyen nadir bir hastalıktır. Bu hastalıkta görülen nörolojik bulgular ilerleyen dönemlerde Cerebral Palsy’nin (CP) klinik özelliklerine benzemektedir. CP ise matür beynin hasarına bağlı, ilerleyici olmayan, kalıcı, motor bozukluk ile karakterize bir çocukluk çağı sendromudur. Özellikle fizik tedavi ve rehabilitasyon odaklı merkezlerde farklı etiyolojide tanısı netleşmeyen bazı nörolojik hastalıklar CP olarak değerlendirilmekte ve belki bu sebeple hastalar yanlış tedaviye maruz kalmaktadırlar. Bu doğrultuda ilk değerlendirmede CP’yi akla getiren, nadir görülen genetik geçişli IP'nin CP’den farklı özelliklerini ve CP’ye benzer özelliklerini sunmayı amaçladık.
Olgumuz 48 aylık kız bebek doğumdan hemen sonra vücudunda oluşmuş ciddi yaralar sebebiyle hastaneye götürülmüştür. Hastanede yapılan genetik taramayla IP tanısı konmuştu. Olgumuzda motor gerilik, kas iskelet sistemi problemleri bulunmaktaydı. Aile hastadaki nörolojik bulgular ve gelişim problemleri sebebiyle bölümümüze başvurdu.
References
- nedeni olarak inkontinentia pigmenti: olgu sunumu. JGON. 2015;12(5):198-199
- Kitakawa D, Fontes PC, Magalhaes FA, Almeida JD, Cabral LA. Incontinentia pigmenti presenting as hypodontia in a 3-year-old girl: a case report. J Med Case Rep 2009;3:116.
- Chang JT, Chiu PC, Chen YY, Wang HP, Hsieh KS. Multiple clinical manifestations and diagnostic challenges of incontinentia pigmenti-12 years' experience in 1 medical center. J Chin Med Assoc. 2008;71:455–460.
- Poziomczyk CS, Recuero JK, Bringhenti L et al. Incontinentia pigmenti. An Bras Dermatol 2014;89:26-36.
- Vicente-Villa A, Lamas JV, Pascual AM, Cuesta DL, Marfa MP, Gonzalez-Ensenat MA: Incontinentia pigmenti: a report of ten cases. Eur J Pediatr 2001; 160;1:64-5. 6. Ashwal S, Russman BS, Blasco PA. Diagnostic assesment of child with cerebral palsy. Neurology. 2004;62:851-63.
- Buinauskiene J, Buinauskaite E, Valiukeviciene S. Incontinentia pigmenti (Bloch-Sulzberger syndrome) in neonates. Medicina (Kaunas) 2005;41:496-9. 8. Sarı A, Çelik S.Incontinentia pigmenti: olgu bildirimi ve 5 yıllık takip. Acta Odontol Turc 2017;34(3):109-12
- Başak F, Ergin C, Tekin M, Güneş M, Güneş B, Baysun Ş, Akar NA. Turkish case of incontinentia pigmenti with a deletion mutation at Inhibitor of kappa B kinase gamma gene. Egyptian Journal of Medical Human Genetics. 2022;6:23-6
- Metin A, Altın H. Bir Incontinentia pigmenti (Bloch-Sulzberger sendromu) olgusu. Bidder Tıp Bilimleri Dergisi 2009;1:25-8
- Berlin AL, Paller AS, Chan LS. Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology. J Am Acad Dermatol. 2002;47:169–187
- Fusco F, Fimiani G, Tadini G, Michele D, Ursini MV. Clinical diagnosis of incontinentia pigmenti in a cohort of male patients. J Am Acad Dermatol. 2007;56:264–267
Abstract
Incontinentia pigmenti (IP), which is inherited predominantly on the X chromosome, is organ involvement arising from ectoderm and mesoderm; It is a rare disease that primarily affects the central nervous system, skin, eyes, and teeth. The neurological findings seen in this disease resemble the clinical features of Cerebral Palsy (CP) in later stages. CP is a childhood syndrome characterized by non-progressive, permanent motor impairment due to damage to the mature brain. Especially in centers focused on physical therapy and rehabilitation, some neurological diseases of different etiologies whose diagnosis is not clear are considered as CP, and perhaps for this reason patients are exposed to incorrect treatment. In this regard, we aimed to present the characteristics of the rare genetically inherited IP, which brings CP to mind in the first evaluation, different from CP and similar features to CP.
Our case, a 48-month-old baby girl, was taken to the hospital immediately after birth due to extensive wounds on her body. IP was diagnosed through detailed examination and genetic screening. The patient had motor retardation and musculoskeletal problems. The family applied to our department due to the patient's neurological findings and developmental problems.
References
- nedeni olarak inkontinentia pigmenti: olgu sunumu. JGON. 2015;12(5):198-199
- Kitakawa D, Fontes PC, Magalhaes FA, Almeida JD, Cabral LA. Incontinentia pigmenti presenting as hypodontia in a 3-year-old girl: a case report. J Med Case Rep 2009;3:116.
- Chang JT, Chiu PC, Chen YY, Wang HP, Hsieh KS. Multiple clinical manifestations and diagnostic challenges of incontinentia pigmenti-12 years' experience in 1 medical center. J Chin Med Assoc. 2008;71:455–460.
- Poziomczyk CS, Recuero JK, Bringhenti L et al. Incontinentia pigmenti. An Bras Dermatol 2014;89:26-36.
- Vicente-Villa A, Lamas JV, Pascual AM, Cuesta DL, Marfa MP, Gonzalez-Ensenat MA: Incontinentia pigmenti: a report of ten cases. Eur J Pediatr 2001; 160;1:64-5. 6. Ashwal S, Russman BS, Blasco PA. Diagnostic assesment of child with cerebral palsy. Neurology. 2004;62:851-63.
- Buinauskiene J, Buinauskaite E, Valiukeviciene S. Incontinentia pigmenti (Bloch-Sulzberger syndrome) in neonates. Medicina (Kaunas) 2005;41:496-9. 8. Sarı A, Çelik S.Incontinentia pigmenti: olgu bildirimi ve 5 yıllık takip. Acta Odontol Turc 2017;34(3):109-12
- Başak F, Ergin C, Tekin M, Güneş M, Güneş B, Baysun Ş, Akar NA. Turkish case of incontinentia pigmenti with a deletion mutation at Inhibitor of kappa B kinase gamma gene. Egyptian Journal of Medical Human Genetics. 2022;6:23-6
- Metin A, Altın H. Bir Incontinentia pigmenti (Bloch-Sulzberger sendromu) olgusu. Bidder Tıp Bilimleri Dergisi 2009;1:25-8
- Berlin AL, Paller AS, Chan LS. Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology. J Am Acad Dermatol. 2002;47:169–187
- Fusco F, Fimiani G, Tadini G, Michele D, Ursini MV. Clinical diagnosis of incontinentia pigmenti in a cohort of male patients. J Am Acad Dermatol. 2007;56:264–267
Details
| Primary Language | English |
|---|---|
| Subjects | Anatomy, Neurology and Neuromuscular Diseases |
| Journal Section | Case Report |
| Authors | |
| Publication Date | June 30, 2024 |
| Submission Date | February 27, 2024 |
| Acceptance Date | June 24, 2024 |
| Published in Issue | Year 2024 |