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ABSTRACT X-linked juvenile retinoschisis (XLRS) is a vitreoretinal degeneration caused by mutations in the RS1 gene, generally characterized by bilateral maculopathy and peripheral retinoschisis leading to progressive visual loss during the first 2 decades of life and complications like retinal detachment and vitreous hemorrhage. Herein, we present late ophthalmology findings in a XLRS patient.

RESUMO A retinosquise juvenil ligada ao cromossomo X (XLRS) é uma degeneração vitreorretiniana causada por mutações no gene RS1, geralmente caracterizada por maculopatia bilateral e retinosquise periférica, levando à perda visual progressiva durante as primeiras 2 décadas de vida e complicações como descolamento de retina e hemorragia vítrea. Apresentamos aqui achados oftalmológicos tardios em um paciente com XLRS.

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Fundamento: Las distrofias musculares de Duchenne y de Becker son enfermedades neuromusculares progresivas, con un patrón de herencia recesivo ligado al cromosoma X y causadas por mutaciones en el gen que codifica para la distrofina. El estudio de posibles portadoras en las familias afectadas resulta crucial, ya que genera expectativas y opciones frente al asesoramiento genético.Objetivos: describir el diagnóstico molecular de distrofia muscular de Duchenne/Becker en una familia sin antecedentes patológicos de la enfermedad.Métodos: se realizó un estudio experimental, de las deleciones en el gen distrofia muscular de Duchenne/Becker, en un paciente con diagnóstico clínico de la enfermedad, para lo cual se empleó la técnica de PCR-multiplex siguiendo los métodos descritos por Beggs y Chamberlain. También fueron estudiadas las mujeres de la familia, a través del análisis de marcadores polimórficos mediante repeticiones cortas en tándem de (CA)n.Resultados: fueron identificadas en el paciente deleciones de los exones 47 al 52; así como la procedencia del cromosoma X ligado a la enfermedad (abuelo materno). Se determinó el estado de no portadora en tres mujeres de la familia. No se pudo excluir mosaicismo germinal en la madre del niño.Conclusión: se infirió la ocurrencia de una mutación de novo. El diagnóstico molecular permitió la confirmación diagnóstica de la enfermedad en el niño afectado, además de la posibilidad de brindar un adecuado asesoramiento genético a la familia.

Foundation: Duchenne and  Becker muscular dystrophies are progressive neuromuscular diseases with a pattern of recessive inherited link to chromosome X and caused by mutations in the gene which codifies for dystrophin. The study of possible carriers in affected families is crucial since it generates expectations and options on genetic advisory.Objective: to describe the molecular diagnosis of Duchenne/Becker muscular dystrophy  in a family without pathological antecedents of the disease.Methods: an experimental study was developed about the deletions of Duchenne/Becker gene of muscular dystrophy, in a patient with clinical diagnosis of the disease. It was used multiple PCR technique following the methods described by Beggs and Chamberlain. In addition, the women of the family were studied by the analysis of polymorphic markers through short repetitions in (CA) n tandem.Results: deletions of exons from 47 to 52 were identified in the patient; so as the precedence of the X chromosome related to the disease (maternal grandfather). It was determined the state of non-carrier in three women of the family. It was not possible to exclude germline mosaicism in the child´s mother.Conclusion: the occurrence of a novo mutation was inferred. The molecular diagnosis allowed confirming the diagnosis of the affected child; in addition it was possible to offer adequate genetic advisory to the family.

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Abstract Fabry disease is an X-linked lysosomal storage disease due to alpha-galactosidase A (α-Gal A) deficient activity which leads to the accumulation of glucoesphingolipids, such as globotriaosilceramide. There are over 700 known mutations of the enzyme gene, and most of them cause Fabry Disease. This case report describes a hemodialysis patient with a rare and controversial GLA gene mutation, the D313Y. The medecial investigation confirmed that D313Y is an alpha-galactosidase A sequence variant that causes pseudo deficient enzyme activity in plasma but not Fabry disease. Thus, clinical symptoms that prompted Fabry disease investigation could not be attributable to Fabry disease and therefore enzyme replacement therapy was not indicated.

Resumo Doença de Fabry (DF) é uma doença de depósito lisossômico ligada ao cromossomo X, causada pela deficiência da enzima alfa-galactosidase A (α-Gal A) que leva ao acúmulo de glicoesfingolipídeos, principalmente globotriaosilceramide. Existem mais de 700 mutações conhecidas do gene da enzima, a maioria delas são causadoras de DF. Este relato de caso descreve sobre um paciente em hemodiálise com uma mutação do gene GLA rara e controversa, a D313Y. A investigação médica confirmou que D313Y é uma variante que leva à pseudodeficiência plasmática da enzima, mas não ocasiona DF. Assim, os sintomas clínicos que induziram a investigação da doença não devem ser atribuídos à DF e, portanto, não foi indicada a terapia de reposição enzimática.

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Relatar o caso de um paciente masculino de 28 anos que foi encaminhado ao Centro de Estudos e Pesquisas Oculistas Associados (RJ) para avaliação de retina e apresentou os achados típicos de retinosquise juvenil ligada ao cromossomo X: maculopatia cistóide com formação de cistos na fóvea e retinosquise periférica. Foi realizado o manejo conservador, com atenção para as complicações.

Report the case of a male 28 years-old patient, who was referred to Centro de Estudos e Pesquisas Oculistas Associados – RJ, to retina assessment and presented the tipical findings of the X-Linked Juvenile Retinoschisis: A cystoid maculopathy with formation of foveal cysts and schisis of the peripheral retina. It was carried out the conservative management, with attention to the complications.

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Incontinentia pigmenti is a rare X-linked genodermatosis that affects mainly female neonates. The first manifestation occurs in the early neonatal period and progresses through four stages: vesicular, verruciform, hyperpigmented and hypopigmented. Clinical features also manifest themselves through changes in the teeth, eyes, hair, central nervous system, bone structures, skeletal musculature and immune system. The authors report the case of a patient with cutaneous lesions and histological findings that are compatible with the vesicular stage, emphasizing the importance of early diagnosis and appropriate therapeutic management.

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Incontinentia pigmenti is a rare genodermatosis in which the skin involvement occurs in all patients. Additionally, other ectodermal tissues may be affected, such as the central nervous system, eyes, hair, nails and teeth. The disease has a X-linked dominant inheritance pattern and is usually lethal to male fetuses. The dermatological findings occur in four successive phases, following the lines of Blaschko: First phase - vesicles on an erythematous base; second phase - verrucous hyperkeratotic lesions; third phase - hyperchromic spots and fourth phase - hypochromic atrophic lesions.

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La enfermedad de Kennedy es un trastorno neurodegenerativo de herencia recesiva ligada al cromosoma X, de inicio en la adultez, caracterizado por degeneración progresiva de las neuronas motoras espinales, debido a una mutación dinámica del gen del receptor de andrógeno. Se presentan tres familias (cinco casos) con temblor, calambres, debilidad muscular generalizada lentamente progresiva con atrofia, afectación de músculos bulbares y alteraciones endocrinas. El estudio neurofisiológico demostró compromiso de segunda motoneurona. El análisis molecular mostró una expansión anormal de tripletes citosina-adenina-guanina en el gen de receptor de andrógeno en todos los casos. Todos los pacientes cursaron con una presentación clínica típica de la enfermedad siendo los primeros casos de enfermedad de Kennedy con diagnóstico molecular realizado en el Perú.

Kennedy’s disease is an X-linked recessive disorder with onset in adulthood, characterized by progressive degeneration of spinal motor neurons due to a dynamic mutation in the androgen receptor gene. We report three families (five cases) characterized by progressive weakness involving both limbs and bulbar muscles, atrophy, tremor, cramps and endocrinologic disturbances; the neurophysiological studies demonstrated second motor neuron impairment. The molecular analysis identified abnormal CAG repeats expansion in the androgen receptor gene (AR) in all cases. Clinical features were consistent with other previous reports. These are the first Peruvian cases of Kennedy´s disease with confirmed molecular diagnosis.

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A síndrome de Goltz é uma doença genética rara, de herança dominante ligada ao X, mais comum em doentes do sexo feminino e, na maioria das vezes, resulta no aborto dos fetos do sexo masculino. Tem um amplo espectro de manifestações clínicas possíveis. O diagnóstico consiste no somatório dos numerosos achados clínicos, radiológicos e histopatológicos. O tratamento é o aconselhamento genético, cirurgias reconstrutivas e abordagem multidisciplinar, com objetivo de melhorar a qualidade de vida e garantir uma vida normal e produtiva.

Goltz syndrome is a rare genetic disease of X-linked dominant inheritance. It is more common in female patients and, in most cases, results in miscarriage of male fetuses. It has a broad scope of possible clinical manifestations. Its diagnosis consists of the sum of the many clinical, radiological and histopathological findings. The treatment options are genetic counseling, reconstructive surgery and multidisciplinary approach, aiming to improve quality of life and ensure a normal and productive life.

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Queratose folicular espinulosa decalvante é uma genodermatose rara, ligada ao X, caracterizada por hiperqueratose folicular, fotofobia, alopécia cicatricial do couro cabeludo e supercílios. Descreve-se o caso de paciente do sexo feminino, de 25 anos, com quadro clínico e evolução típicos desta síndrome.

Keratosis follicularis spinulosa decalvans is a rare X-linked genodermatosis, characterized by follicular hyperkeratosis, photophobia, scarring alopecia of the scalp and eyebrows. A case of a 25 yearold female with typical clinical picture and progression of this syndrome is described.

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