Síndrome de Lowe, enfermedad renal crónica y síndrome de Lennox-Gastaut / Lowe syndrome, chronic kidney disease and Lennox-Gastaut syndrome

Introducción: El síndrome de Lowe o síndrome oculocerebrorenal es un trastorno multisistémico. Es una enfermedad rara e infrecuente. Objetivo: Exponer un caso clínico típico, con fracaso renal controlado sin método dialítico y que de manera tardía en su adolescencia se diagnostica con síndrome de Lennox-Gastaut. Presentación caso: Adolescente masculino de 18 años nacido de un embarazo sin riesgo y parto por cesárea, macrofeto. Desde el nacimiento, con diagnóstico perinatal de catarata congénita y evolutivamente glaucoma bilateral con tratamiento conservador. A partir del primer año de vida padece de acidosis tubular y síndrome de Fanconi con evolución a una enfermedad renal crónica. Relacionado todo con retraso del desarrollo psicomotor, discapacidad intelectual, estereotipias, síntomas obsesivos compulsivos y depresión. De manera tardía, a los 10 años tuvo inicio de crisis epilépticas de varios tipos con predominio de las tónicas durante el sueño y en vigilia, frecuentes, con electroencefalograma característico de síndrome Lennox-Gastaut. Tuvo atención interdisciplinaria y evolución clínica estable hasta la edad adulta cumplida. El estudio molecular de ADN materno y del niño confirmaron la mutación c2224_2226 del GTA (exón 19), delección de valina en la posición 742 del cromosoma X del OCRL 1, que ratifica el síndrome de Lowe. Conclusiones: El Síndrome de Lowe, es un trastorno multisistémico, ligado al cromosoma X y frecuente en varones. Clínicamente se caracteriza por alteraciones oftalmológicas, renales y neurológicas(AU)

Introduction: Lowe syndrome or oculocerebrorenal syndrome is a multisystemic disorder. It's a rare and uncommon disease. Objective: Show a typical clinical case, with controlled renal failure without dialytic method and that late in the adolescence is diagnosed with Lennox-Gastaut syndrome. Case presentation: 18-year-old male adolescent born of a risk-free pregnancy and cesarean delivery, with macrosomia. From birth, he had a perinatal diagnosis of congenital cataract and evolutionarily bilateral glaucoma with conservative treatment. From the first year of life he suffers from tubular acidosis and Fanconi syndrome with an evolution to chronic kidney disease. All of these were related to delayed psychomotor development, intellectual disability, stereotypies, obsessive-compulsive symptoms and depression. Lately, at 10 years old, epileptic seizures of various types with predominance of tonic ones during sleep and wakefulness began; they were frequent, with characteristic electroencephalogram of Lennox-Gastaut syndrome. He had interdisciplinary care and stable clinical evolution into adulthood. The molecular study of the mother and child DNA confirmed the c2224_2226 mutation of GTA (exon 19), valine deletion at position 742 of the X chromosome of OCRL 1, which ratifies Lowe syndrome. Conclusion: Lowe Syndrome is a multisystemic disorder, linked to the X chromosome and common in males. Clinically, it is characterized by ophthalmological, renal and neurological alterations(AU)

Enterite mesentérica como complicação rara do lúpus eritematoso sistêmico / Mesenteric enteritis as a rare complication of systemic lupus erythematosus

A dor abdominal no paciente com lúpus eritematoso sistêmico tem amplo espectro clínico, variando desde condições inespecí- ficas, como diarreia e vômitos, até eventos de importante morbi- mortalidade, como o abdome agudo inflamatório e/ou perfura- tivo. A seguir, descreve-se um caso de paciente do sexo feminino, de 23 anos, internada por dor abdominal associada a vômitos e à diarreia crônica e progressiva. Foi diagnosticada com lúpus eritematoso sistêmico há 2 anos. Durante a internação, evoluiu com quadro de abdome agudo, e foi realizada tomografia compu- tadorizada de abdome, revelando importante edema de parede intestinal difuso. Isso, somado a alterações clínico-laboratoriais, permitiu o diagnóstico de enterite lúpica. Foi realizado tratamen- to conservador, com corticoterapia e terapia de suporte com correção de distúrbios eletrolíticos severos, sendo iniciado ciclo- fosfamida, com resolução dos sintomas gastrintestinais.

Abdominal pain in patients with systemic lupus erythematosus has a broad clinical spectrum, ranging from nonspecific symp- toms, such as diarrhea and vomiting, to events of significant morbidity and mortality, such as acute inflammatory and/or per- forating abdomen. This article describes a case of a 23-year-old female patient hospitalized for abdominal pain, associated with vomiting and progressive chronic diarrhea. She was diagnosed with systemic lupus erythematosus 2 years ago. During hospita- lization, the patient progressed with acute abdomen, and an ab- dominal computed tomography scan was performed, revealing major diffuse intestinal wall edema. This, added to clinical and laboratories alterations, allowed the diagnosis of lupus enteritis. A conservative treatment with corticotherapy and supportive therapy with correction of severe electrolyte disturbances were initiated, as well as the prescription of cyclophosphamide, with resolution of gastrointestinal symptoms.