Diabetes mellitus y ataxia de Friedreich en un niño: una difícil coexistencia / Diabetes mellitus and Friedreich´s ataxia in a child: a complicated coexistence

La ataxia de Friedreich, de herencia autosómica recesiva causada por una expansión repetida de trinucleótidos se asocia, entre otras complicaciones sistémicas, con diabetes mellitus. La aparición de torpeza motriz, con dificultad en la carrera y el salto en un varón de 6 años motivaron el estudio genético para ataxia de Friedrich y permitieron confirmar el diagnóstico. Tres años más tarde, se diagnosticó diabetes mellitus y se inició el tratamiento con insulina. Durante el seguimiento, presentó un importante deterioro neurológico, con necesidad de usar silla de ruedas, lo que dificultó un adecuado control metabólico. Se presenta el manejo y la evolución de un paciente con ataxia de Friedreich y diabetes mellitus

Friedreich's ataxia is an autosomal recessive disease caused by trinucleotide repeat expansion, presenting among other systemic complications, diabetes mellitus. The appearance of motor clumsiness, with running and jumping difficulties in a 6-year-old boy prompted the genetic study of Friedreich's ataxia, confirming his diagnosis. After diagnosis,it was evaluated by Pediatric Cardiology, detecting the presence of non-obstructive hypertrophic cardiomyopathy, and by Pediatric Endocrinology, due to overweight. At 9 years of age, he was diagnosed with diabetes mellitus, a regimen of insulin treatment was initiated. During follow-up, he presented significant neurological deterioration, reaching the use of a wheelchair,which hinders adequate metabolic control. This is a report of a pediatric patient with Friedrich ataxia and diabetes mellitus.

Otoneurological Abnormalities in Patients with Friedreich's Ataxia

Abstract Introduction Friedreich's ataxia is a neurodegenerative disease and progressive by nature. It has autosomal recessive inheritance and early onset inmost cases. Nystagmus and hearing loss (in some cases) make up some of the common symptoms seen in this disorder. Objective The objective of this study is to examine vestibular disorders in patientswith Friedreich ataxia. Methods We conducted a retrospective cross-sectional study. We evaluated 30 patients with ages ranging from six to 72 years (mean age of 38.6 ( 14.7). The patients underwent the following procedures: anamnesis, ENT, and vestibular evaluations. Results Clinically, the patients commonly had symptoms of incoordination of movement (66.7%), gait disturbances (56.7%), and dizziness (50%). In vestibular testing, alterations were predominantly evident under caloric testing (73.4%), gaze nystagmus testing (50.1%), rotational chair testing (36.7%), and optokinetic nystagmus testing (33.4%). The presence of alterations occurred under examination in 90% of subjects, with the majority occurring in those with central vestibular dysfunction (70% of the examinations). Conclusion The most evident neurotological symptoms were incoordination of movement, gait disturbances, and dizziness. Alterations in vestibular examinations occurred in 90% of patients, mostly in the caloric test, with a predominance of deficient central vestibular system dysfunction.

Ataxia de Friedreich de inicio tardío: Descripción clínica en una familia argentina / Late onset Friedreich ataxia: clinical description of a family in Argentina

La ataxia de Friedreich (AF) es la ataxia hereditaria más común; está causada por una expansión anormal del triplete GAA del primer intrón del gen X25 en el cromosoma 9. Se presenta comúnmente en menores de 25 años y se asocia a trastornos musculoesqueléticos, endocrinos y miocárdicos. Entre sus variantes fenotípicas se describen casos que inician su sintomatología después de los 25 años de edad, definidos como ataxia de Freidreich de inicio tardío (AFIT). Nuestro objetivo fue la descripción de una familia con tres hermanos afectados, todos de inicio tardío. Los síntomas se iniciaron entre los 32 y 34 años, con trastornos de la marcha y disartria cerebelosa, que se agravaron en el curso de 6 a 12 meses, haciéndose más evidentes. Ninguno presentaba compromiso musculoesquelético ni miocárdico. No existían antecedentes familiares de ataxias u otros trastornos neurológicos. En 2 casos se realizó estudio genético que evidenció la expansión anormal del triplete GAA, confirmando el diagnóstico de AF. Se realizaron resonancias magnéticas (RM) de encéfalo, encontrándose atrofia medular con preservación de estructuras cerebelosas en dos casos, y atrofia vermiana y medular en el tercero. En las ataxias cerebelosas con disartria y pérdida de la sensibilidad profunda que se inician después de los 25 años, sean éstas esporádicas o vinculadas a una herencia recesiva, se debe considerar la investigación de expansiones GAA en el gen de la AF.

Friedreich Ataxia (FA) is the most common hereditary ataxia, caused by abnormal expansion of the GAA triplet of the first intron of the X25 gene on chromosome 9. Clinically it occurs in patients under the age of 25 and it is frequently associated with musculoskeletal, endocrine and myocardial disorders. Among their phenotypic variants there are patients starting their symptoms after the age of 25. The latter group is defined as late onset Freidreich ataxia (LOFA). The objective of this work is to present three siblings affected by late onset Friedreich ataxia. Their symptoms began between the ages of 32 and 34, with gait disturbance and dysarthria of cerebellar type, which worsened, thus becoming more evident in the course of 6-12 months. None had musculoskeletal or myocardial involvement. There was no family history of ataxia or other neurological disorders. Two of these patients underwent genetic study that showed abnormal expansion of GAA triplet confirming the diagnosis of FA. A magnetic resonance imaging (MRI) of the brain was performed. Proximal spinal cord atrophy, sparing cerebellar structures, was found in two of the cases and vermian atrophy associated with proximal spinal cord atrophy was observed in the third one. Molecular testing GAA expansions in the FA gene should be considered in cerebellar ataxia with dysarthria and loss of proprioception.

Study of FRDA gene in suspect Friedreich ataxia patients

Friedreich ataxia [FA] is an autosomal recessive disorder. Cause of about 2-4% of disease is a GAA triplet repeat expansion in the one allele and carries a point mutation as the other allele. This study was performed to investigate exons of FXN gene to find point mutations for the first time in Iran. In this descriptive study, 50 patients suspected to FA who referred to Special Medical Center were investigated. Genomic DNA was investigated by different PCR methods, including PCR for intron, Long PCR and PCR for exons of FXN gene. Then, products were sequenced and finally sequences were analyzed by related software. C to G nucleotide in intron 2 nt:825954, and T to C in intron 3 nt:832729 of FRDA gene were observed by sequencing method. Nucleotide G insertion was detected in exon 5a nt: 822225. Our study showed that diagnosis of FA is not simple because of clinical overlapping with other ataxia, some mutations in intron maybe affect on the disease which need more examination, and because of consanguinity marriage in Iran, some patients with homozygote mutation may show FA phenotype

Magnetic resonance spectroscopy in pediatric neurology.

In the last three decades a range of non-invasive biophysical techniques have been developed, of which Magnetic Resonance (MR) has proved to be the most versatile. Its non-invasive and safe nature has made it the most important diagnostic and research tool in clinical medicine. MR Spectroscopy (MRS) is the only technique in clinical medicine that provides non-invasive access to living chemistry in situ. This article focuses mainly on proton MRS in brain and also phosphorus MRS in calf muscle, with particular reference to the pediatric population, the normal spectrum and its use in various disease conditions in the practice of pediatric neurology. Few representative case studies among different disease groups have also been detailed.

Friedrich disease within the child [report of 7 cases]

Through the observation of seven cases we reported the epidemiological, clinical, paraclinical, evolutionary and therapeutical aspects of this disease. Epidemiologically, the sex ratio is of 0,75. The medium age is of six years and two months. Factors in favor of a hereditary origin are the consanguinity found in 28,6% of cases and the presence of a similar case in the family observed in 42,3%. Clinically, the quasi constantly neurolgical signs are ataxia [100%], dysarthria [71, 4%], areflexia of endon reflex in both lowner limbs [57,14], deep sensation troubles are less frequent [28,6%]. Vestibular affection with form of horizontal nystagmus is found in 14,3% of cases. The dysmorphic syndrome is in the form of claw feet found in [57,14%] and of dorsal scoliosis in [14,3%]. Cardiac affection in the form of cardiopathy is noted in two magnetic resonance imagery in one patient. The electromyography is disturbed in 28.6% of cases. The genetic study done to two cases [28,6%]. Paraclinically, we found cerebellar atrophy in 57,14% which was confirmed by cases showed an expansion of the triplet GAA at the level of the chromosome nine. Improvement under symptomatic treatment based on muscular and functional physiotherapy was progressively slow for all our patients

Ataxia de Friedreich y embarazo / Friedreich's ataxia and pregnancy

Se presenta un caso clínico exitoso de embarazo y parto en un paciente portadora de una ataxia de Friedrich

Clinical and molecular studies in five Brazilian cases of Friedreich ataxia

Friedreich ataxia (FRDA), the most commom autosomal recessive ataxia, is caused in 94 per cent of cases by homozygous expansions of an unstable GAA repeat localised in intron 1 of the X25 gene. We have investigated this mutation in five Brazilian patients: four with typical FRDA findings and one patient with atypical manifestations, who was considered to have some other form of cerebellar ataxia with retained reflexes. The GAA expansion was detected in all these patients. The confirmation of FRDA diagnosis in the atypical case may be pointing out, as in other reports, that clinical spectrum of Friedreich's ataxia is broader than previously recognised and includes cases with intact tendon reflexes.

Síndrome de Friedreich / Friedreich's syndrome

A síndrome de Friedreich é uma degeneraçäo espinocerebelar conseqüente de alteraçäo bioquímica de causa genética. Os autores descrevem umcaso de síndrome de Friedreich que procurou serviço médico na Disciplina de Otoneurologia da Escola Paulista de Medicina täo somente quando surgiram sinais e sintomas vestibulares

Ataxia de Friedreich: relato de dois casos / Friedreich's ataxia: report of 2 cases

Os autores relatam dois casos com diagnóstico de ataxia de Friedreich. Säo irmäs de 15 e de 14 anos. Os pacientes apresentam a mesma sintomatologia em diferentes graus de evoluçäo. Os achados clínicos e neurológicos säo discutidos nesse artigo

Early onset hereditary spinocerebellar ataxia: an autosomal recessive disorder distinct from Friedreich's ataxia.

The important clinical features of seven patients with an early onset slowly progressive heredofamilial spinocerebellar degenerative disorder of probably autosomal recessive inheritance included limb ataxia, retained and/or exaggerated tendon reflexes (biceps and knee), pyramidal weakness of lower limbs and normal sensory action potentials. This rare disorder is probably distinct from Friedreich's ataxia and carries a better prognosis.