Autopsy always teach and tell: neurodegeneration with brain iron accumulation: a case report.

Neurodegeneration with brain iron accumulation (NBIA), or Hallervorden- Spatz disease, is an extremely rare autosomal recessive disorder with cysteine-iron complex accumulation in globus pallidus, seen histopathologically. Magnetic resonance imaging offers an opportunity for diagnosis; however, therapeutic options are still ineffective. We report a case of 13-year-old girl, symptomatic since the age of three years with dystonia, poor scholastic performance and speech disturbances. She was admitted with aspiration pneumonia, and died before she could be investigated. Examination of brain at autopsy revealed iron deposition in bilateral globus pallidi, confirmed by special stains and elemental dispersion analysis by spectrometry and a diagnosis of Hallervorden- Spatz disease or NBIA was made. This report highlights the importance of autopsy and scanning electron microscopic examination in unsuspected cases where cause of death is not known.

Hallerborden Spatz disease.

Hallervorden Spatz disease is a rare disorder characterized by progressive extrapyramidal dysfunction. We report a case of a 18 year old boy who presented with cervical dystonia, pigmentary retinal degeneration and MRI brain showing the "eye-of-the-tiger" appearance. Renamed recently as "Neurodegeneration with brain iron accumulation", we present this case for its rarity and interesting features.

Pantothenate kinase associated neurodegeneration (Hallervorden-Spatz syndrome).

Hallervorden-Spatz syndrome is a rare autosomal recessive hereditary condition characterized by early onset of progressive movement alteration that include dystonia, rigidity and choreoathetosis usually associated with pyramidal signs and mental deterioration. We report two sisters where diagnosis was missed till MRI showed classic imaging findings. Mutation analysis in one, revealed homozygous mutations in the PANK 2 gene. The need for clinical recognition of this entity and differentiation of this form from other static and progressive neurological illnesses is emphasized.

Hallervorden-Spatz syndrome in two siblings diagnosed by clinical features and magnetic resonance imaging.

The Hallervorden-Spatz syndrome (HSS) is a rare condition characterized by extrapyramidal and pyramidal signs, dystonia, dysarthria, retinal degeneration, dementia and a progressive course. The development of magnetic resonance imaging (MRI) has increased the number of clinical and pathological reports of HSS. MRI pallidal abnormalities are called "eye of the tiger" signs. The combination of clinical features and MRI findings can be considered as highly suggestive of a diagnosis of HSS. Patient 1 was a 28 year old man who had been well until the age of 25 years. He developed dysarthria, difficulty with his gait and dystonia in his arms at the age of 28 years. Patient 2 was a 33 year old man who was the older brother of the first patient. He developed gait difficulty, tongue dystonia and dystonia of both arms at the age of 25 years. Each patient had spastic gait, dysarthria, dystonic posturing of both arms and generalized hyperreflexia, but no Kayser-Fleischer rings or retinitis pigmentosa. Blood chemistry, urine copper, serum copper and serum ceruloplasmin were all normal. MRI of the brain showed the "eye of the tiger" sign in the globus pallidus on T2 weighted images. These siblings had clinical features and MRI findings consistent with HSS. They are the first to be reported in Thailand.

Hallervorden Spatz disease: MR imaging.

Three patients were diagnosed as suffering from Hallervorden Spatz disease, a rare disorder, on the basis of their clinical and MRI findings.

Enfermedad de hallervorden-spatz: manifestaciones clínico-radiológicas

Se presenta el caso de una paciente de 18 años con diagnóstico de enfermedad de Hallervorden-Spatz cuya sintomatología neurológica progrsiva con movimientos anormales en miembros inferiores y superiores, disartria y deterioro mental se inicio desde la edad de 4 años. El examen de resonancia magnética que demuestra depósitos de hiero anormales en los globos pálidos y en la sustancia nigra confirma la impresión clínica de la enfermedad

Parkinsonismo precoce associado a lesöes palidais de tipo eye-of-the-tiger / Precocious Parkinson's disease associated to eye-of-the-tiger type pallidal lesions

Relata-se o caso de uma paciente com quadro parkinsoniano instalado aos 26 anos de idade, 30 anos de evoluçäo, boa reposta à levodopa e desenvolvimento precose de discinesias induzidas por essa droga. Essas características associadas à ausência de outras manifestaçöes neurológicas ao longo de todo o curso da moléstia sugeriam substrato anátomo-patológico superponível ao da forma clássica da doença de Parkinson. Entretanto, as imagens de ressonância magnética mostraram lesöes palidais do tipo "eye-of-the-tiger", semelhantes às observadas na doença de Hallervorden-Spatz. O presenta caso ilustra a heterogeneidade patológica dos casos de parkinsonismo de instalaçäo precoce e a possibilidade do encontro desse padräo de lesöes palidais em outras doenças degenerativas dos gânglios da base

Doença de Hallervorden-Spatz: descriçäo de um caso / Hallervorden-Spatz syndrome: report of a case

É relatado o caso de paciente de sexo masculino de 19 anos de idade, com quadro progressivo de distúrbio de comportamento e de postura distônica, com início nas extremidades do hemicorpo direito há 5 anos. Ao exame apresenta síndrome extrapiramidal e piramidal, sendo o diagnóstico de doença de Hallervorden-Spatz confirmado pela ressonância nuclear magnética do crânio (RM). O objetivo deste registro é ressaltar a importância da RM no estudo de doenças degenerativas do sistema nervoso

Hallervorden-Spatz syndrome in two siblings diagnosed by the clinical features and magnetic resonance imaging (MRI)

Hallervorden-Spatz syndrome (HSS) is a heredodegenerative disorder characterized by both progressive pyramidal and extrapyramidal signs, dysarthric speech, and mental deterioration. No diagnostic biochemical test is yet available, and diagnosis of HSS can be confirmed only at autopsy by the characteristic neuropathology including abnormal iron storage, disordered myelination, and loss of brain substance. We present two siblings with clinical features consistent with HSS, in whom magnetic resonance imaging (MRI) demonstrated the deposition of iron in the globus pallidus and the substantia nigra thus allowing an antemortem diagnosis of HSS.

Hallervorden-Spatz syndrome: infantile neuroaxonal dystrophy' complex: case report

A síndrome de Hallervorden-Spatz bem como a distrofia neuroaxonal infantil säo patologias raras e os limites entre ambas säo ainda imprecisos. Apresentamos o caso de menina de 7 anos e meio com rebaixamento mental, distonia, crises convulsivas e coriorretinite. CT mostrava hiperdensidade dos putâmens, sem sinais de atrofia cerebral. Ao exame anatomopatológicos observou-se intensa coloraçäo avermelhada dos putâmens, porém com ausência de pigmento férrico. A microscopia eletrônica foram observados os <> axonais. Por haver características de ambas as patologias, registramos este caso, como complexo <>