ABSTRACT
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)
Subject(s)
Humans , Male , Adolescent , Cataract/therapy , Rare Diseases/etiology , Renal Insufficiency, Chronic/therapy , Lennox Gastaut Syndrome/diagnosis , Oculocerebrorenal Syndrome/diagnosis , Electroencephalography/methodsABSTRACT
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.
Subject(s)
Humans , Female , Young Adult , Enteritis/etiology , Lupus Erythematosus, Systemic/complications , Vomiting/etiology , Water-Electrolyte Imbalance/therapy , Tomography, X-Ray Computed , Abdominal Pain/etiology , Ultrasonography , Adrenal Cortex Hormones/therapeutic use , Rare Diseases/etiology , Diarrhea/etiology , Enteritis/diagnosis , Enteritis/drug therapy , Administration, Intravenous , Piperacillin, Tazobactam Drug Combination/therapeutic use , Anti-Inflammatory Agents/therapeutic use , Anti-Bacterial Agents/therapeutic useABSTRACT
Introducción: Los feocromocitomas son tumores que se desarrollan a partir de las células cromafines localizadas en la médula suprarrenal, ganglios simpáticos y parasimpáticos. La distinción entre tumores benignos y malignos es compleja, pues no existen marcadores que puedan discriminar esta diferencia con alta sensibilidad y especificidad. Objetivo: Presentar tres casos clínicos de feocromocitoma maligno, diagnosticados y/o tratados en la sala de hospitalización de adultos del INEN. Método: Se revisaron las historias clínicas y se resumieron los datos. Presentación de los casos: Los 3 pacientes eran del sexo masculino, con edades entre 41 y 51 años al diagnóstico del tumor primario. De ellos, dos tenían una hipertensión arterial controlada y el tercero se comenzó a estudiar por crisis paroxísticas de hipertensión; dos tenían antecedentes de diabetes mellitus y no se demostraron evidencias en ningún caso de lesiones en órganos diana por la hipertensión. En los tres pacientes el tumor se localizó en la suprarrenal derecha. Solo en uno de los casos, la etiología maligna fue informada en el estudio anatomopatológico. En los otros dos pacientes, la malignidad se diagnosticó a punto de partida de lesiones metastásicas, años después de la adrenalectomía, en un caso de cadera y en el otro, de pulmón. Conclusiones: El feocromocitoma maligno es una enfermedad infrecuente de la edad mediana y el diagnóstico de su naturaleza es complejo. Se debe sospechar la aparición de enfermedad metastásica ante la reaparición de los síntomas que motivaron el estudio inicial en el paciente, incluso, años después de la adrenalectomía(AU)
Introduction: Pheochromocytomas are tumors developed from chromaffin cells located in the suprarenal medulla, as well as in sympathetic and parasympathetic ganglia. The distinction between benign and malignant tumors is complex, since there are no markers to discriminate this difference with high sensitivity and specificity. Objective: To present three clinical cases of malignant pheochromocytoma, diagnosed and/or treated in the adult hospitalization ward at the National Institute of Endocrinology. Method: The medical records were reviewed and the data was summarized. Case presentation: The three patients were male and aged between 41 and 51 years at the diagnosis of the primary tumor. Of them, two had controlled arterial hypertension and the third began to be studied for paroxysmal hypertension crises; two had a history of diabetes mellitus and no evidence of target-organ lesions due to hypertension was shown in any case. In the three patients, the tumor was located in the right suprarenal gland. Only in one of the cases, malignant etiology was reported in the pathological study. In the other two patients, the malignancy was diagnosed at the starting point of metastatic lesions, years after adrenalectomy: two respective hip and lung cases. Conclusions: Malignant pheochromocytoma is a rare disease that appears at middle age and whose diagnosis is complex, due to its etiological nature. The appearance of metastatic disease should be suspected, given the reappearance of the symptoms that motivated the initial study in the patient, even years after adrenalectomy(AU)
Subject(s)
Humans , Male , Adult , Middle Aged , Pheochromocytoma/diagnosis , Sensitivity and Specificity , Adrenal Gland Neoplasms/epidemiology , Adrenalectomy/methods , Rare Diseases/etiology , Neoplasm Metastasis/physiopathologyABSTRACT
We report the case of a 37-year-old woman investigated for left flank pain 1 year after bariatric surgery (Roux-en-Y gastric bypass). Abdominal computed tomography (CT) revealed a solid intra-abdominal lesion measuring 9.3 × 9.4 × 10.4 cm, compressing adjacent structures with no signs of invasion. Ileocolectomy with partial mesenteric resection was performed. A histopathological and immunohistochemical analysis confirmed the diagnosis of mesenteric desmoid tumor.(AU)
Subject(s)
Humans , Female , Adult , Gastric Bypass/adverse effects , Fibromatosis, Aggressive/etiology , Mesentery , Abdominal Neoplasms/etiology , Peritoneal Neoplasms/diagnosis , Fibromatosis, Aggressive/diagnosis , Rare Diseases/diagnosis , Rare Diseases/etiologyABSTRACT
Gorham's disease, also known as idiopathic massive osteolysis, is a rare pathological condition characterized by vascular proliferation that results in destruction and reabsorption of the bone matrix, of unknown etiology. It was first described by Jackson in 1838, but it was Gorham and Stout, in 1955, who defined this disease as a specific entity. It has variable clinical presentation and generally has progressive behavior. Controversy continues regarding the treatment and there is no standard treatment. This pathological condition generally presents a favorable prognosis. Here, a case of Gorham's disease with involvement of the left hip is presented, in a male patient without relevant antecedents.
A doença de Gorham, também conhecida por osteólise maciça idiopática, é uma patologia rara, caraterizada por uma proliferação vascular que resulta na destruição e reabsorção da matriz óssea, de etiologia desconhecida. Foi descrita pela primeira vez em 1838 por Jackson, mas foram Gorham e Stout, em 1955, que definiram a doença como uma entidade específica. Com uma apresentação clinica variável, geralmente tem um comportamento progressivo. O tratamento permanece controverso, não há um tratamento padrão. Essa patologia apresenta geralmente um prognóstico favorável. É apresentado um caso de doença de Gorham com envolvimento do quadril esquerdo, num doente do sexo masculino, sem antecedentes de relevo.
Subject(s)
Humans , Male , Middle Aged , Rare Diseases/etiology , Osteolysis/diagnosis , Osteolysis/pathologyABSTRACT
We report on a rare case of an adult with severe hypercalcemia secondary to the ectopic secretion of parathyroid-related peptide (PTH-rP) from a penile squamous cell cancer (PC). A patient of 47 years old was admitted with warty lesions and areas of ulceration covered by purulent material in a large area of the groin, scrotum and penis. Laboratory tests revealed severe hypercalcemia and elevation of PTH-rP; the biopsy reported PC. Hypercalcemia was successfully treated with zoledronic acid, however, the tumor displayed aggressive behavior, which resulted in a poor prognosis for the patient.
Relatamos um caso raro em um adulto com hipercalcemia grave secundária à secreção ectópica de peptídeo relacionado ao paratormônio (PTH-rP) de um carcinoma de células escamosas do pênis (CP). Um paciente de 47 anos foi admitido com lesões verrucosas e áreas de ulceração cobertas por material purulento em uma grande área da virilha, escroto e pênis. Os testes laboratoriais revelaram hipercalcemia grave e elevação do PTH-rP; a biópsia mostrou um CP. A hipercalcemia foi tratada de forma bem-sucedida com ácido zoledrônico. Entretanto, o tumor apresentava um comportamento agressivo, resultando em um prognóstico ruim para o paciente.
Subject(s)
Humans , Male , Middle Aged , Carcinoma, Squamous Cell , Hypercalcemia/etiology , Parathyroid Hormone , Penile Neoplasms , Bone Density Conservation Agents/therapeutic use , Diphosphonates/therapeutic use , Hypercalcemia/drug therapy , Imidazoles/therapeutic use , Pelvis , Rare Diseases/etiology , Rare Diseases/metabolism , Tomography, X-Ray ComputedABSTRACT
The term Marine-Lenhart syndrome describes the association between Graves’ disease and autonomously functioning thyroid nodules (AFTN), such as toxic adenoma or toxic multinodular goiter. The two diseases may coexist or may be present at different moments in the same patient. In the literature, there are many reports on the development of Graves’ disease after radioiodine treatment for AFTN, but very little information may be found on the occurrence of AFTN after radioiodine therapy for Graves’ disease. We describe here the case of a female patient with Graves’ disease who was successfully treated with radioiodine for Graves’ disease, returning to normal thyroid function. Three years later, biochemical analysis and ultrasound examination identified a thyroid nodule that progressively increased in size. The 99mTc-pertechnetate scintigraphy showed avid uptake in the right lobule, which corresponded to a nodular lesion consistent with AFTN.
O termo “síndrome de Marine-Lenhart” descreve a associação da doença de Graves e nódulos tireoidianos de funcionamento autônomo (AFTN), como no adenoma tóxico ou bócio multinodular tóxico. As duas doenças podem coexistir ou podem estar presentes em diferentes momentos no mesmo paciente. Na literatura, existem muitos relatos sobre o desenvolvimento da doença de Graves após radioiodoterapia para AFTN, mas muito poucos dados podem ser encontrados em relação ao aparecimento de AFTN após radioiodoterapia para doença de Graves. Descrevemos o caso de uma paciente do sexo feminino com doença de Graves que realizou com sucesso o tratamento com iodo radioativo, com a normalização da função da tireoide. Três anos depois, uma análise bioquímica e um exame de ultrassonografia identificaram o aparecimento de um nódulo na tireoide que progressivamente aumentou de tamanho. A cintilografia com 99mTc-pertecnetato revelou uma captação ávida no lóbulo direito, correspondente à lesão nodular, consistente com uma AFTN.
Subject(s)
Adult , Female , Humans , Graves Disease/complications , Rare Diseases , Thyroid Nodule/complications , Follow-Up Studies , Iodine Radioisotopes/therapeutic use , Radiopharmaceuticals , Rare Diseases/etiology , Thyroid Gland , Thyroid Gland , Thyroid Nodule/diagnosis , Thyroid Nodule/radiotherapy , Thyrotropin/bloodABSTRACT
El Síndrome/Secuencia de Mõebius es un trastorno raro del desarrollo que se caracteriza por parálisis facial,(generalmente bilateral) debido a una agenesia o aplasia de los núcleos de los nervios craneales VI y VII; con frecuencia asociado a parálisis de otros pares craneales. Numerosas teorías han intentado explicar la etiopatogenia de este síndrome pero ninguna explica la variabilidad de la sintomatología ni la disparidad de los hallazgos anatomopatológicos. El diagnóstico es fundamentalmente clínico y requiere un equipo multidisciplinario para su evaluación y seguimiento...
Summary: Moebius syndrome/sequence is a rare congenital disorder characterized by facial palsy, due to absence or aplasia of the nuclei of cranial nerves VI and VII, frequently associated with other cranial nerve palsy. Numerous theories tried to explain the pathogenesis of this syndrome but none of them explain the variability of symptoms, or the disparity of pathological findings. Diagnosis is primarily clinical and there is no treatment, requiring a multidisciplinary team.
Subject(s)
Child , Rare Diseases/complications , Rare Diseases/diagnosis , Rare Diseases/etiology , Facial Paralysis , Cranial Nerves/abnormalitiesABSTRACT
A doença de Gorham é uma rara desordem osteolítica, de etiologia controversa, que pode afetar qualquer osso. O substrato histopatológico é a substituição óssea por uma formação expansiva de natureza vascular agressiva, não neoplásica. Descrevemos os achados radiográficos, tomográficos e de ressonância magnética de um caso desta afecção acometendo a escápula esquerda e, dois anos depois, a clavícula ipsilateral.
Gorham's disease is a rare osteolytic disorder of still controversial etiology that may affect any bone. The histopathological substrate for such a condition is the replacement of normal bone by aggressive non-neoplastic expansile vascular tissue. The authors describe radiographic, computed tomography and magnetic resonance imaging findings in a case of this entity initially affecting the left scapula and, two years later, the ipsilateral clavicle.