Urrets-Zavalia Syndrome following cataract surgery in a case of anterior megalophthalmos / Síndrome de Urrets-Zavalia após cirurgia de catarata em um caso de megaloftalmo anterior

ABSTRACT Intraoperative and postoperative cataract surgery in eyes with anterior megalophthalmos are challenging procedures. Herein we describe the case of a 53-year-old male with anterior megalophthalmos who developed unilateral Urrets-Zavalia Syndrome following cataract surgery.

RESUMO O intraoperatório e o pós-operatório de cirurgia de catarata em olhos com megaloftalmo anterior é desafiador. Descrevemos o caso de um homem de 53 anos com megaloftalmo anterior que desenvolveu a Síndrome de Urrets-Zavalia unilateral após cirurgia de catarata.

Agammaglobulinemia ligada al cromosoma X en adultos: Evolucion clínica / X-linked agammaglobulinemia in adults. Clinical evolution

La agammaglobulinemia ligada al cromosoma X (XLA) se caracteriza por la ausencia o reducción significativa de linfocitos B, niveles bajos o indetectables de inmunoglobulinas y, clínicamente, por infecciones principalmente respiratorias por bacterias capsuladas extracelulares y diarrea recurrente. El tratamiento de reemplazo con gammaglobulina ha permitido a la mayor parte de los enfermos llegar a adultos con una buena calidad de vida. Analizamos las características clínicas de 14 pacientes mayores de 18 años con diagnóstico de XLA asistidos en nuestra Unidad desde 2003, fecha en que fue derivado el primer paciente, hasta 2015. La edad promedio en el momento de la derivación fue de 20.4 años, en el momento de la última consulta de 25.5. El tiempo promedio de seguimiento fue de 59.8 meses. Previo al diagnóstico todos habían presentado infecciones, las más frecuentes fueron las respiratorias. Posteriormente al diagnóstico todos iniciaron tratamiento de reemplazo con gammaglobulina endovenosa, y a pesar de que las infecciones disminuyeron en frecuencia y gravedad, en este período se presentaron enfermedades con secuelas graves. Al comenzar el seguimiento en nuestra Unidad, 35.7% presentaban deterioro de la función respiratoria, solo grave en un paciente. Durante el seguimiento ninguno presentó deterioro de la función respiratoria ni complicaciones clínicas importantes. Tres pasaron a gammaglobulina subcutánea con buena tolerancia. El número de adultos con XLA es cada vez mayor, la mayoría llegan a la segunda década de la vida sin complicaciones graves y bajo tratamiento se mantienen libres de enfermedades infecciosas graves y de progresión de sus secuelas pulmonares.

X-linked agammaglobulinemia (XLA) is characterized by absent or severely reduced B cells, low or undetectable immunoglobulin levels and clinically by extracellular bacterial infections which mainly compromise the respiratory tract as well as recurrent diarrheas. The mainstay of treatment is gammaglobulin replacement therapy, which allows most patients to reach adulthood with high quality of life. We analyzed the clinical features of 14 patients over 18 years of age with XLA diagnosis that received treatment in our unit from the year 2003, the date the first patient was derived, until 2015. The average age at which patients were referred was 20.4 years old; age at the last consult was 25.5. The average follow-up time was 59.8 months. Previously to being diagnosed all patients had suffered infections, most frequently respiratory. After diagnosis all were started on intravenous gammaglobulin replacement treatment and in spite of infections being reduced in severity and frequency, there were cases of severe disease with long term sequelae. At the beginning of our follow-up 35.7% presented impaired respiratory function with only one case being severe. In no cases during this period did the respiratory function worsen, nor were there severe clinical complications. Three patients were switched to subcutaneous immunoglobulin treatment with good tolerance. The number of XLA cases is increasing, as most reach the second decade of life without serious complications and remain free of severe infectious disease and further impairment of their respiratory functions with the treatment.

Diabetes melito tipo 1 no contexto das poliendocrinopatias auto-imunes: [revisão] / Type 1 diabetes and autoimmune polyendocrine syndromes: [review]

Três entidades clínicas distintas, causadas por desarranjos genéticos, estão associadas a múltiplas desordens auto-imunes: síndrome linfoproliferativa auto-imune, poliendocrinopatias auto-imunes (APSs) e desregulação imune, poliendocrinopatia, enteropatia ligada ao X (IPEX). O diabetes melito auto-imune ou tipo 1 (DM1) pode estar presente nas APSs e na IPEX. A APS-1 caracteriza-se pela associação de candidíase crônica, hipoparatireoidismo e insuficiência adrenal auto-imune ou idiopática (doença de Addison), no entanto, o diabetes melito tipo 1 pode estar presente em até 12 por cento dos casos. A APS-2 inclui a doença de Addison (sempre presente), a doença tireoidiana auto-imune e o diabetes melito tipo 1, enquanto na APS-3 a doença tireoidiana se associa a outra doença imunológica, excluindo a insuficiência adrenal e o hipoparatireoidismo, e a APS-4 é composta por combinações diferentes das descritas anteriormente. Já a IPEX caracteriza-se por alteração rara da regulação auto-imune que resulta doenças auto-imunes de início precoce, envolvendo pâncreas, tireóide, intestino com diarréia secretora grave, eczema e anemia. O diagnóstico e o tratamento das doenças componentes das poliendocrinopatias e da IPEX são semelhantes ao da patologia na forma isolada.

Type 1 diabetes (T1D) is associated with autoimmune thyroid disease (AIT), celiac disease (CD), Addison's disease (AD), and other autoimmune diseases. These diseases can occur simultaneously in defined syndromes with distinct pathophysiology and characteristics: autoimmune polyendocrine syndromes (APSs) and the immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX). APSs were initially defined as a multiple endocrine gland insufficiency associated to an autoimmune disease in a patient. APS-1 is characterized by the evidence of chronic candidiasis, chronic hypoparathyroidism, AD and T1D could be present as part of this syndrome. The combination of autoimmune adrenal insufficiency with AIT and/or type 1 autoimmune diabetes mellitus defines APS-2. AIT associated to other autoimmune diseases (excluding AD and/or hypoparathyroidism) are the main characteristics of APS-3. Different clinical combinations of autoimmune diseases which were not included in the previous groups are the characteristics of APS-4. IPEX is a recessive disorder characterized by the neonatal onset of T1D, infections, enteropathy, thrombocytopenia and anemia, as well as endocrinopathy, eczema and cachexia. These disorders are not common, but their consequences can be life threatening when the diagnosis is overlooked, and the treatment is the same prescribed for isolated disease presentation.

Recurrent pneumonia caused by genetic immunodeficiency: a prophylactic and rehabilitative approach

Recurrent infections are a consequence of a series of genetic diseases characterized by deficiency in the immunological response. One of these diseases is the agammaglobulinemia, which is characterized by the basic defect in the maturation of lymphocytes B. The carrier of this kind of immunodeficiency, which is linked to the X (XLA) chromosome, has had primary pneumonias that have evolved into secondary pneumonias (chronic lungs with sequelae) after the third or fourth year of life. The clinical and rehabilitative quest for prophylaxis against the XLA immunodeficiency is accomplished in order to avoid the evolution of the bacterial infection into sequelae and loss of pulmonary function, which propitiates the recurrence of the disease and deteriorates the life quality of the patient. Forty cases of recurrent respiratory infections were studied. Some of them were associated with primary respiratory diseases without investigation of serum immunoglobulins and some were not. Casuistics was performed according to data from medical records with pertinent treatments collected from January 1997 to September 2004 at the Specialized Physiotherapy Center. Age average was 2.7 years of life. It is statistically impossible to precise results concerning only the immunosuppressed patients due to the lack of specific diagnosis. That is explained by the fact that recurrent XLA pneumonias may be attributed to the gastroesophageal reflux disease or to bronchial asthma. However, the improved results showed by the pulmonary function as preventive strategy were attributed to the respiratory physiotherapy, since intravenous immunoglobulin replacement therapies were not performed. Respiratory physiotherapy acts as a supportive factor in the healing process and occupies a fundamental role in the prophylaxis against recurrent respiratory clinical features, especially those of obstructive and secretionary characteristics.

Recurrent Campylobacter lari bacteremia in X-linked agammaglobulinemia: a case report and review.

X-linked agammaglobulinemia (XLA) is a primary immune deficiency disease with a B-cell defect. We present the first XLA patient who had recurrent Campylobacter lari bacteremia. High dose intravenous immunoglobulin combined with azithromycin once per week, and a complete avoidance of bacterial reservoirs may be helpful for the prevention of C. lari bacteremia.

Lissencephaly, abnormal genitalia and refractory epilepsy: case report of XLAG syndrome / Lisencefalia, genitália ambígua e epilepsia refratária: relato de caso da síndrome XLAG

INTRODUCTION: X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder caused by mutation in the aristaless-related homeobox (ARX) gene (Xp22.13). Patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly and male genotype with ambiguous genitalia. CASE REPORT: Second child born to healthy nonconsanguineous parents, presented with seizures within the first hour of life that remained refractory to phenobarbital, phenytoin and midazolam. Examination identified microcephaly, axial hypotonia, pyramidal signs and ambiguous genitalia. EEG showed disorganized background activity and seizures starting at the right midtemporal, central and occipital regions. MRI showed diffuse pachygyria, moderate thickening of the cortex, enlarged ventricles, agenesis of the corpus callosum and septum pellucidum. Karyotype showed a 46,XY genotype. Additional findings were hypercalciuria, vesicoureteral reflux, patent ductus arteriosus and chronic diarrhea.

INTRODUÇÃO: Lisencefalia com genitália ambígua ligada ao X (XLAG) é doença genética recentemente descrita, causada por mutação no gene aristaless-related homeobox (ARX) (Xp22.13). Os pacientes apresentam lisencefalia, agenesia de corpo caloso, epilepsia refratária com início no período neonatal, microcefalia adquirida e genótipo masculino com genitália ambígua. RELATO DE CASO: Segundo filho de pais não-consangüíneos, apresentou crises na primeira hora de vida que permaneceram refratárias a fenobarbital, fenitoína e midazolam. Apresentava microcefalia, hipotonia axial, sinais de liberação piramidal e genitália ambígua. EEG demonstrou atividade de base desorganizada, crises convulsivas com início nas regiões temporal-média, central e occipital direitas. RNM demonstrou paquigiria difusa, moderado espessamento do córtex, ventrículos aumentados, agenesia de corpo caloso e septo pelúcido. Cariótipo evidenciou genótipo 46,XY. Achados adicionais foram: hipercalciúria, refluxo vésico-ureteral, ducto arterioso persistente e diarréia crônica.

X-linked agammaglobulinemia in northern Thailand.

X-linked agammaglobulinemia (XLA) is a primary immunodeficiency characterized by a failure to generate immunoglobulins of all isotypes due to the absence of mature B cells and plasma cells, secondary to mutations in the Bruton's tyrosine kinase (Btk) gene. We report six patients with XLA, confirmed by mutation analysis, from northern Thailand. The mean age of onset was 2.5 years and the mean age at diagnosis was 7.3 years. All patients had a history of otitis media, pneumonia and arthritis at the time of diagnosis, five patients had developed bronchiectasis and 3 patients septicemia. Other infections reported included sinusitis (5/6), pericarditis (1/6), meningitis (1/6) and pyoderma (1/6). Haemophilus influenzae, Streptococcus pneumoniae, Pseudomonas aeruginosa and Staphylococcus aureus were isolated on multiple occasions. One patient died of sepsis at the age of 16 years. These observations demonstrate that early diagnosis and treatment can improve prognosis and quality of life.

Complex glycerol kinase deficiency: an X-linked disorder associated with adrenal hypoplasia congenita.

Complex glycerol kinase deficiency (GKD) results from the contiguous deletion on Xp21 of all or part of the gene for glycerol kinase together with that for adrenal hypoplasia congenita (AHC) and /or Duchenne muscular dystrophy (DMD). The authors present the case of a newborn whose initial issues were refractory hypoglycaemia along with hyponatremia and hyperkalemia. He also had low serum cortisol levels and raised urinary excretion of glycerol and required steroid supplementation. His creatinine phosphokinase (CPK) levels were normal. Molecular studies revealed a contiguous Xp21 deletion. Therapy in such cases must be prompt and includes correction of hypoglycaemia and dyselectrolytemia, a low fat diet and steroid replacement.