ABSTRACT
INTRODUCTION: Huntington's disease (HD) is a rare autosomal dominant disease caused by the expansion of CAG triplets in the gene that encodes huntingtin. There are earlier symptoms' onset in offspring due to the phenomenon of anticipation. The clinical features of childhood-onset HD, before age 10 years, differs from adult-onset form. It is characterized by motor impairment, behavioral difficulties and delay or regression in areas of development; while chorea is rarely seen. In this case we describe clinical aspects of a patient with childhood-onset Huntington's disease. CASE REPORT: A 5-year-old girl with a family history of HD and typical development up to 3 years of age. She progressively acquired language impairment with skills that were below her age in expressive and receptive areas, without deficits in pragmatic and social skills. Regarding motor skills, she manifested instability at walking and standing, with rigidity, dystonia and choreic movements. Atrophy of the basal ganglia was evident on MRI, EEG was normal, and molecular confirmation of CAG triplet revealed repeat length of 51 copies. CONCLUSION: Childhood-onset HD differs from adult-form´s clinical manifestations. It should be considered in patients with progressive motor and cognitive impairment. Due to family inheritance, it is important to carefully examine family history and take it into account even without relatives affected, considering the anticipation phenomenon.
TITLE: Enfermedad de Huntington de inicio en la infancia. Una presentación poco frecuente.Introducción. La enfermedad de Huntington (EH) es una enfermedad de herencia autosómica dominante caracterizada por la expansión de tripletes de citosina-adenina-guanina (CAG) en el gen que codifica la huntingtina. Los síntomas en la descendencia suelen ser más tempranos por el fenómeno de anticipación. La clínica de inicio en la infancia, antes de los 10 años, difiere de la observada en la adultez. Se manifiesta por afectación motora, dificultades conductuales y retraso o regresión del desarrollo. La corea es infrecuente. El objetivo del caso es describir aspectos clínicos de una paciente con EH de inicio infantil. Caso clínico. Niña de 5 años con antecedentes familiares de EH y desarrollo típico hasta los 3 años. Presentó progresivamente afectación del lenguaje con habilidades descendidas para su edad en aspectos expresivos y comprensivos, sin afectación en las habilidades pragmáticas y sociales. En cuanto a la motricidad, la marcha y la bipedestación eran inestables, y mostraba rigidez, distonía y movimientos coreicos. Presentó atrofia de los núcleos lenticulares y caudados en la resonancia magnética, y posteriormente se realizó el diagnóstico molecular con la expansión de tripletes CAG (51 copias). Conclusión. La EH de inicio en la infancia presenta manifestaciones clínicas distintas a la forma del adulto. Debe considerarse en pacientes con afectación motora y cognitiva progresiva. Por la herencia familiar, es importante interrogar cuidadosamente sobre los antecedentes familiares y tenerla en cuenta aun sin familiares afectados por el fenómeno de anticipación.
Subject(s)
Chorea , Cognitive Dysfunction , Huntington Disease , Humans , Adult , Female , Child , Child, Preschool , Atrophy , Basal GangliaABSTRACT
Early diagnosis and successful antimicrobial therapy have diminished the frequency of embolomycotic aneurysms, but infected aortic and small vessel aneurysms, arteriosclerotic plaques, and prosthetic grafts are becoming more common. A broad spectrum of pathogens, including Staphylococcus, Salmonella, Enterobacteriaceae, Pseudomonas aeruginosa, and some unusual organisms, are associated with this change. We treated four patients (three with abdominal aortic aneurysms and one with a prosthetic graft) with arterial infections caused by Listeria monocytogenes. Only seven other cases have previously been recorded in the world literature. Infection is suspected when a palpable or radiographically defined aneurysm is present with an otherwise obscure febrile illness. In about one-third of patients, blood cultures have yielded the pathogen. Newer imaging techniques have helped confirm the diagnosis. These infections are best managed by surgical resection in combination with long-term, appropriate antimicrobial therapy with ampicillin or sulfonamides. Unlike other adult listerial infection, except endocarditis, in arterial infection, immunosuppression and malignancy are not predisposing factors.
Subject(s)
Aortic Aneurysm/microbiology , Aortic Rupture/microbiology , Listeria monocytogenes/isolation & purification , Listeriosis/microbiology , Aged , Aged, 80 and over , Aorta, Abdominal , Bacteremia/microbiology , Female , Humans , Male , Middle AgedABSTRACT
A near-drowning by a young man in an indoor pool is reported, and the current concepts of therapy are discussed. Laboratory studies of the patient's neutrophil function and chemotactic response were performed on the day of admission and on hospital days 2 and 4. Neutrophil function and chemotaxis were equal to control values, indicating no effect of near-drowning on these aspects of the host immune system. Hospital admission and supportive therapy including intubation, positive end-expiratory pressure, steroids, and antibiotics are recommended, if necessary, in management of the nearly drowned patient.
Subject(s)
Drowning/blood , Near Drowning/blood , Neutrophils/physiology , Adolescent , Anti-Bacterial Agents/therapeutic use , Blood Bactericidal Activity , Chemotaxis, Leukocyte , Humans , Hydrocortisone/therapeutic use , Intubation , Male , Positive-Pressure RespirationABSTRACT
Systemic candidiasis has emerged as a major cause of death in burn patients. An increase both in the incidence of systemic candidiasis and its increase as a cause of death has been observed. Treatment with systemic amphotericin-B prior to 1971 at our institution was rarely successful. This was felt to be in part due to lack of sufficiently early recognition of the infection and to delay in the initiation of appropriate systemic therapy. From 1971 to 1975, fifteen patients have been treated with systemic amphotericin-B with one death. There have been no fatalities from candidiasis since 1972. No serious complications attributed to the use of amphotericin-B were observed. Prompt initiation of therapy with intravenous amphotericin-B is advised for burn patients in whom systemic candidiasis is present.
