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Dergiler / Türk Patoloji Dergisi / 2019 / Cilt: 35 - Sayı: 2

Ambiguous Genitalia Associated with an Extremely Rare Syndrome: A Case Report of XLAG Syndrome and Review of the Literature

Prashant RAMTEKE
Brijnandan GUPTA
V K PAUL
Prasenjit DAS
Tarun KUMAR
Sayfa
162–165
Yayın Tarihi
2022-11-05
DOI
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⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

Till date the longest survival noted was 4 years only.

📌 3 Maddede Bu Makale

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Amaç & Hipotez:X-linked lissencephaly, absent corpus callosum, and epilepsy of neonatal onset with ambiguous genitalia comprises the XLAG syndrome andonly 15 cases have been reported in literature.
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Temel Bulgular & Veri:Due to its rarity, the exact clinical course and outcome are not known.
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Sonuç & Katkı:Till date the longest survival noted was 4 years only.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Abstract

X-linked lissencephaly, absent corpus callosum, and epilepsy of neonatal onset with ambiguous genitalia comprises the XLAG syndrome andonly 15 cases have been reported in literature. Due to its rarity, the exact clinical course and outcome are not known. Exact associations of thisdisease are also elusive. Hereby we are reporting this extremely rare entity and we searched the English literature extensively to get consolidatedknowledge regarding this entity that would help the readers. Pre-natal radiological work-up can detect these malformations, which should befollowed by medical termination, counseling and karyotyping. Till date the longest survival noted was 4 years only.

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Bu Makaleye Atıf Yap

RAMTEKE, P., GUPTA, B., PAUL, V. K., DAS, P., KUMAR, T. (2022). Ambiguous Genitalia Associated with an Extremely Rare Syndrome: A Case Report of XLAG Syndrome and Review of the Literature. Türk Patoloji Dergisi, Cilt: 35 - Sayı: 2, 162–165. https://ajindex.com/articles/640420

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Kaynakça (12)

  1. Dobyns WB, Berry-Kravis E, Havernick NJ, Holden KR, Viskochil D. X-linked lissencephaly with absent corpus callosum and ambiguous genitalia. Am J Med Genet. 1999;86:331-7
  2. Miura H, Yanazawa M, Kato K, Kitamura K. Expression of a novel aristaless related homeobox gene ‘Arx’ in the vertebrate telencephalon, diencephalon and floor plate. Mech Dev. 1997;65:99-109
  3. Neuronal migration disorders and cortical dysplasia. In: Norman MG, McGillivray BC, Kalousek DK, Hill A, Poskitt KJ, editors. Congenital malformations of the brain. Pathological, embryological, clinical, radiological and genetic aspects. Oxford: Oxford University Press;1995:223-77
  4. Bonneau D, Toutain A, Laquerrière A, Marret S, Saugier-Veber P, Barthez MA, Radi S, Biran-Mucignat V, Rodriguez D, Gélot A. X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): Clinical, magnetic resonance imaging, and neuropathological findings. Ann Neurol. 2002;51:340-9
  5. Uyanik G, Aigner L, Martin P, Gross C, Neumann D, MarschnerSchäfer H, Hehr U, Winkler J. ARX mutations in X-linked lissencephaly with abnormal genitalia. Neurology. 2003;61:232-5
  6. Spinosa MJ, Liberalesso PB, Vieira SC, Olmos AS, Löhr A Jr. Lissencephaly, abnormal genitalia and refractory epilepsy: Case report of XLAG syndrome. Arq Neuropsiquiatr. 2006;64:1023-6
  7. Jagła M, Kruczek P, Kwinta P. Association between X-linked lissencephaly with ambiguous genitalia syndrome and lenticulostriate vasculopathy in neonate. J Clin Ultrasound. 2008;36:387-90
  8. Okazaki S, Ohsawa M, Kuki I, Kawawaki H, Koriyama T, Ri S, Ichiba H, Hai E, Inoue T, Nakamura H, Goto Y, Tomiwa K, Yamano T, Kitamura K, Itoh M. Aristaless-related homeobox gene disruption leads to abnormal distribution of GABAergic interneurons in human neocortex: Evidence based on a case of X-linked lissencephaly with abnormal genitalia (XLAG). Acta Neuropathol. 2008;116:453-62
  9. Özdemir ÖM, Cağlar M, Koçyiğit A, Dündar NO, Sangün Ö, Dündar B. Primary hypogonadism in a case with XLAG syndrome. J Pediatr Endocrinol Metab. 2012;25:1161-3
  10. Motlagh AJ, Zahedpasha Y, Ahmadpourkacho M. X-Linked Lissencephaly with absent corpus callosum and ambiguous genitalia: A case report. Iranian Journal of Neonatology 2016;7:75-9
  11. Berg MJ, Schifitto G, Powers JM, Martinez-Capolino C, Fong CT, Myers GJ, Epstein LG, Walsh CA. X-linked female band heterotopia-male lissencephaly syndrome. Neurology. 1998;50:1143-6
  12. Kitova TT, Kitov B, Milkov D, Gaigi S. Postnatally