Manejo dental de paciente con Síndrome de Hallervorden-Spatz: reporte de caso / Manejo odontológico de paciente com síndrome de Hallervorden-Spatz: relato de caso / Dental management of a patient with Hallervorden-Spatz syndrome: case report

El Síndrome de Hallervorden-Spatz es una afección neurodegenerativa rara, autosómica recesiva, caracterizada por depósitos en gran cantidad de hierro en los ganglios de base, lo que ocasiona gran pérdida motora y mental. Presenta dos formas de manifestación: la clásica, que aparece en la infancia a lo largo de la primera década de vida, y la atípica, cuyas manifestaciones clínicas aparecen de forma tardía, entre la segunda y tercera décadas de vida. El objetivo del presente estudio es describir un caso clínico de tratamiento endodóntico, en ambulatorio, de una paciente del sexo femenino, de 28 años, con manifestaciones clásicas de dicho síndrome, con cambio de color en el elemento 11 y lesión periapical, que justifica la indicación de endodoncia. La atención odontológica de una enfermedad neurodegenerativa rara, realizada en forma ambulatoria, requiere el conocimiento del dentista para que se conduzca de forma eficiente y segura

A síndrome de Hallervorden-Spatz é uma afecção neurodegenerativa rara, autossômica recessiva, caracterizada por depósitos em grande quantidade de ferro nos gânglios de base, o que ocasiona grande perda motora e mental. Apresenta duas formas de manifestações: a clássica, que surge na infância na primeira década de vida; e a atípica, cujas manifestações clínicas surgem mais tardiamente, entre a segunda e terceira décadas de vida. O objetivo desse estudo foi descrever um caso clínico de tratamento endodôntico, ambulatorial, de uma paciente do sexo feminino, 28 anos, com manifestações clássicas da síndrome, apresentando mudança de cor no elemento 11 com lesão periapical, justificando a indicação para endodontia. O atendimento odontológico de uma doença neurodegenerativa rara; realizado em ambiente ambulatorial, requer o conhecimento do dentista para que seja conduzido de forma eficiente e segura.

Hallervorden-Spatz syndrome is a rare, autosomal recessive neurodegenerative disorder characterized by large deposits of iron in the basal ganglia, which causes great motor and mental loss. It presents two forms of manifestations: the classic, which arises in childhood in the first decade of life; and the atypical, whose clinical manifestations appear later, between the second and third decades of life. The objective of this study was to describe a clinical case of endodontic outpatient treatment of a female patient, 28 years old, with classic manifestations of the syndrome, showing color change in element 11 with periapical lesion, justifying the indication for endodontics. The dental care of a rare neurodegenerative disease in an outpatient setting requires the dental surgeon's knowledge so that it is conducted efficiently and safely.

Evolução clínica e nutricional de uma paciente com a síndrome de hallervorden spatz: relato de caso clínico / Clinical and nutritional evolution of a patient with hallervorden spatz syndrome: clinical case report

Relatou-se o caso de um paciente com a Síndrome de Hallervorden Spatz, acolhida no programa domiciliar do Hospital Regional da Asa Norte (HRAN), Brasília, DF e discutir a terapia nutricional instituída para melhoria de qualidade de vida da mesma. Trata-se de um estudo de caso clínico compreendido entre o período de 01/09/2017 a 30/10/2017 onde se averiguou toda a evolução clínica e nutricional do paciente durante o período de internação. Após a introdução adequada de uma conduta dietoterápica para a situação da paciente, ocorreram mudanças em seu diagnóstico nutricional, levando-a a sair do nível de desnutrição com consequente ganho ponderal, além de aliviar a constipação intestinal crônica e promover a cicatrização da lesão por pressão. A partir de uma elaboração dietoterápica, pode-se notar que a terapia nutricional instituída demonstrou benefícios para a qualidade de vida da paciente com a Síndrome de Hallervorden Spatz

Botulinum Toxin-A Injection in the Treatment of Spasticity in a Infantile-Onset Neurodegeneration With Brain Iron Accumulation: A Case Report

Pantothenate kinase-associated neurodegeneration (PKAN) is a neurodegenerative disorder characterized by iron accumulation in the globus pallidus (GP) of the brain (neurodegeneration with brain iron accumulation [NBIA]), which is characterized by dystonia and spasticity resulting in postural difficulties. A 33-month-old boy was admitted with a pronounced gait disturbance. Marked hypertonicity in the patient's both calf muscles was noted, resulting in waddling with repeated slip-falls. NBIA was suspected by high T2 intensity in the GP on brain MRI, then it was confirmed by detecting PANK2 mutation. Botulinum toxin-A injection was administered to both calf muscles. After 2 weeks, a decrease in spasticity and an increase in range of motion were observed, and consequently, an increase in the patient's gait stability with both heels touching the ground, enabling him to walk straight independently. A definitive treatment for NBIA has not been established, and a symptomatic therapy is currently the mainstay of treatment in this case. This is the first case report of botulinum toxin injection for treatment of gait disturbance caused by spasticity in an infantile-onset PKAN.

All that glitters is not gold: When motor and vocal tics in a child do not match Tourette syndrome: A case report / Nem tudo que reluz é ouro: quando tiques motores e vocais em uma criança não combinam com Síndrome de Tourette: relato de caso

ABSTRACT The atypical form of Pantothenate Kinase-Associated Neurodegeneration (PKAN) tends to present at around the age of 14 years, has a heterogeneous presentation with extrapyramidal symptoms, and approximately one third of patients exhibit psychiatric problems. This paper reports the case of a patient with apparent typical symptoms of Tourette syndrome. However, the severity and poor response to treatment led to further investigation and the diagnosis of PKAN as a secondary cause of Tourettism was reached.

RESUMO A forma atípica de PKAN costuma se apresentar por volta dos 14 anos de idade, possui uma sintomatologia heterogênea, com sintomas extrapiramidais e, em cerca de um terço dos pacientes, também com a manifestação de sintomas psiquiátricos. O presente artigo relata o caso de uma paciente com sintomatologia típica da Síndrome de Tourette à primeira vista. Entretanto, a gravidade do quadro e pouca resposta ao tratamento levaram a uma maior investigação e ao diagnóstico de PKAN como causa secundária do Tourettismo.

Neurodegeneration with brain iron accumulation: A case report / Neurodegeneração com acúmulo cerebral de ferro: relato de caso

ABSTRACT Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder caused by mutation in the PANK2 gene. It is characterized by abnormal brain iron accumulation, mainly in the globus pallidus. PKAN is included in a group of disorders known as neurodegeneration with brain iron accumulation (NBIA). We report a case of atypical PKAN with its most characteristic presentation, exhibiting marked psychiatric symptoms, speech disorder and focal dystonia. Brain MRI has great diagnostic importance in this group of disorders and, in this case, disclosed the eye-of-the-tiger sign. Genetic testing confirmed the diagnosis.

RESUMO Neurodegeneração associada à pantotenato-quinase (PKAN) é uma entidade autossômica recessiva causada pela mutação do gene PANK2. Caracteriza-se por depósito cerebral anormal de ferro, particularmente nos globos pálidos. PKAN faz parte de um grupo de desordens conhecidas como neurodegeneração com acúmulo cerebral de ferro (NBIA). Relatamos um caso de PKAN atípica com sua apresentação mais característica, sendo evidentes sintomas psiquiátricos marcados, distúrbio da fala e distonia focal. A ressonância magnética de crânio possui grande importância diagnóstica neste grupo de desordens, e neste caso, demonstrou o sinal do olho de tigre. O teste genético confirmou o diagnóstico.

Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans

OBJECTIVE: Neurodegeneration with brain iron accumulation (NBIA) represents a group of inherited movement disorders characterized by iron accumulation in the basal ganglia. Recent advances have included the identification of new causative genes and highlighted the wide phenotypic variation between and within the specific NBIA subtypes. This study aimed to investigate the current status of NBIA in Korea. METHODS: We collected genetically confirmed NBIA patients from twelve nationwide referral hospitals and from a review of the literature. We conducted a study to describe the phenotypic and genotypic characteristics of Korean adults with atypical pantothenate kinase-associated neurodegeneration (PKAN). RESULTS: Four subtypes of NBIA including PKAN (n = 30), PLA2G6-related neurodegeneration (n = 2), beta-propeller protein-associated neurodegeneration (n = 1), and aceruloplasminemia (n = 1) have been identified in the Korean population. The clinical features of fifteen adults with atypical PKAN included early focal limb dystonia, parkinsonism-predominant feature, oromandibular dystonia, and isolated freezing of gait (FOG). Patients with a higher age of onset tended to present with parkinsonism and FOG. The p.R440P and p.D378G mutations are two major mutations that represent approximately 50% of the mutated alleles. Although there were no specific genotype-phenotype correlations, most patients carrying the p.D378G mutation had a late-onset, atypical form of PKAN. CONCLUSIONS: We found considerable phenotypic heterogeneity in Korean adults with atypical PKAN. The age of onset may influence the presentation of extrapyramidal symptoms.

A Case of Retinal Pigmentary Degeneration in PKAN

PURPOSE: Pantothenate kinase-associated neurodegeneration (PKAN), also known as neurodegeneration with brain iron accumulation is an extremely rare degenerative disease. The present study reports a case of retinal pigmentary changes in PKAN. CASE SUMMARY: A 6-year-old girl presented with night blindness and developmental delay. Neurologic examination revealed toe gait and dystonia. Ocular examination showed retinal pigmentary change in the entire retina without optic atrophy. Brain magnetic resonance imaging showed iron deposits in the basal ganglia, the so-called "eye of the tiger" sign. Genetic tests confirmed a mutation in the gene encoding pantothenate kinase 2. Electroretinography demonstrated severe loss of rod and cone responses, prominently reduced in the rod response. The patient was diagnosed with PKAN and pharmacologic treatment started. CONCLUSIONS: In the case of systemic neurological abnormalities with pigmentary retinal change, PKAN should be considered as a differential diagnosis.

Probable neurodegeneración asociada a pantotenato Kinasa (PKAN). Estudio de cuatro casos en Perú / Likely degeneration associated with pantothenate kinase (PKAN). Study of four cases in Peru

Introducción: La PKAN (Neurodegeneración Asociada a Pantotenato Kinasa) es una enfermedad autosómica recesiva caracterizada clinicamente por presentarse en la primera infancia, regresión en el desarrollo psicomotor, compromiso extrapiramidal, piramidal y neuro-oftalmológico, de curso progresivo y fatal. La alteración genética se encuentra en el cromosoma 20p12.3-p13 que codifica la pantotenato kinasa, que regula el metabolismo del pantotenato, fundamental en la síntesis de ácidos grasos. Su alteración resulta en un aumento de la concentración de cisteína y el depósito de hierro en los ganglios basales. Casos Clínicos: Se presentan cuatro pacientes, dos de ellos con antecedente de consanguinidad, que iniciaron síntomas neurológicos entre los 3 a 6 años de edad, caracterizados por distonía, coreoatetosis, regresión psicomotora, compromiso visual y piramidalismo, de curso progresivo, que fallecieron antes de los 10 años de edad. La RM de encéfalo mostró las características imágenes de ôojos de tigreõ, correspondientes al depósito de hierro en los globos pallidus, concluyéndose en el diagnóstico de PKAN. Conclusión: Se presentan cuatro pacientes peruanos que por sus características hereditarias, clínicas y radiológicas corresponden al diagnóstico de PKAN.

Introduction: PKAN is an autosomal recessive disorder clinically characterized by delayed motor involvement, pyramidal and extrapyramidal symptoms, and neuro-ophthalmologic involvement with a progressive course and fatal outcome.The causal gene is localized to chromosome 20pI2.3-pI3 which encodes forpanthothenate kinase. Pantothenate kinase regulates panthothenate metabolism and is integral to fatty acids synthesis. Its alteration may result in an elevated concentration of cysteine and iron accumulation in the basal ganglia. Case Report: We report four patients between the ages of 3 and 6 with a history ofconsanguinity who presented with a specific constellation of neurological symptoms, characterized by dystonia, choreoatetosis, psychomotor regression, visual involvement, pyramidalism, and a progressive course culminating in death prior to the age of 10. MRI showed the "eye-of-the-tiger" sign related to iron deposits at the globus pallidus, consistent with the diagnosis of PKAN.Conclusion: We report four Peruvian cases that according to inheritance, clinical and imaging characteristics correspond with a diagnosis of PKAN.

Psychiatric Disorder in Two Siblings with Hallervorden-Spatz Disease

Hallervorden-Spatz disease (HSD) is a rare autosomal-recessive hereditary disorder characterized by the early onset of progressive movement alterations, including dystonia, rigidity, choreoathetosis, and mental deterioration. HSD is also associated with a variety of psychiatric symptoms, primarily depression and mental deterioration. However, psychosis has rarely been reported as a major symptom of HSD. We report two siblings who presented psychiatric symptoms as major clinical presentations, accompanied by ataxic and spastic gait, dysarthria, and typical neuroimaging findings of HSD. A 14-year-old girl presented complex motor tics, stereotypic behavior and anxiety symptoms. Her older brother, a 16-year-old boy, presented prominent auditory hallucinations, persecutory delusions and social withdrawal symptoms. Psychiatric symptoms were improved after atypical antipsychotic treatment. HSD is a rare disease but should be carefully considered in the diagnosis of patients with both motor disorder and various psychiatric symptoms.

Atypical pantothenate-kinase associated neurodegeneration [PKAN] in two Iranian patients

Pantothenate kinase- associated neurodegeneration [PKAN] or Hallervorden-Spatz syndrome is a rare autosomal recessive disorder characterized by dystonia, Parkinsonism, and iron accumulation in the brain. There are two types of this disease: the classic disease which is characterized by an early onset and rapid progression, and the atypical disease which is characterized by later onset and slow progression. Clinical diagnosis is based on clinical and characteristic magnetic resonance imaging findings. We report two Iranian cases of atypical PKAN, the diagnosis of which was missed till MRI showed classic imaging findings

Hallervorden-spatz syndrome magnetic resonance image [MRI] appearance

25 years male presented to the medical outdoor with signs and symptoms of extra pyramidal dysfunction and abnormal body movements and reflexes. Initial diagnosis was Wilson disease. Patient was referred to MRI department for brain MRI. On MRI images there were typical findings of hallervordon - spatz syndrome

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.

Neurodegeneración con acumulación de hierro tipo 1. Revisión de la bibliografía y reporte de un caso / Type 1 neurodegeneration with iron deposition. Case report and literature review

La neurodegeneración con acumulación de hierro tipo 1 (enfermedad de Hallervorden-Spatz) es una entidad rara, que se caracteriza por una disfunción extrapiramidal progresiva y demencia. Usualmente, inicia en la niñez tardía o adolescencia temprana. La enfermedad puede ser esporádica o familiar. En este artículo se presenta el caso de un paciente de 17 años de edad con diagnóstico de Hallervorden- Spatz y con los hallazgos imagenológicos típicos de esta enfermedad.

Hallervorden spatz disease: MR and pathological findings of a rare case.

We describe a child with pathologically proven Hallervorden Spatz disease. He presented with extrapyramidal symptoms and characteristic "eye-of-the-tiger" sign on magnetic resonance imaging. He was given the possible benefit if any of deep brain stimulation with no much improvement. Pathological examination of the brain showed iron deposition in bilateral globus pallidi, spongiform change and neuron axonal degeneration (spheroids).

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.

Studies on PANK2 gene mutations in Chinese patients with Hallervorden-Spatz syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study pantothenate kinase 2 (PANK2) gene mutations in Chinese patients with Hallervorden-Spatz syndrome (HSS).</p><p><b>METHODS</b>PANK2 gene mutations were detected by PCR, DNA sequence analyses, restriction enzyme digestion and PCR-single strand conformation polymorphism in 5 patients, 3 unaffected family members and 51 unrelated healthy persons.</p><p><b>RESULTS</b>Novel compound heterozygous PANK2 gene mutations, A803G and T1172A, in exons 3 and 5, respectively, were found in one patient. At the same time, 3 types of single nucleotide polymorphisms, -38 t>a in 5'-UTR, IVS1+42 c>a and G77C in exon 1, were confirmed; among them, -38 t>a, IVS1+42 c>a, were first reported.</p><p><b>CONCLUSION</b>PANK2 gene mutations can cause HSS in Chinese patients.</p>

Síndrome de Hallervorden Spatz: achados na resonância magnética. Relato de caso / Hallervorden Spatz syndrome: magnetic resonance findings. Case report

A síndrome de Hallervorden-Spatz é afecção neurodegenerativa, autossômica recessiva com duas apresentações clínicas: precoce e tardia. Esta última é caracterizada pelo acometimento psiquiátrico e a presença de sinais piramidais e extrapiramidais. Relatamos o caso de mulher de 41 anos, com história de alterações extrapiramidais. O exame de ressonância magnética (RM) mostrou o sinal dos olhos-de-tigre, lesão dos globos pálidos mediais com deposição de ferro periférica (hipo-sinal) e gliose central (hipersinal), nas seqüências com tempo de repetição (TR) longo. Há forte relação entre o sinal na RM e mutações no gene responsável pela lesão, fazendo deste exame sensível o suficiente para a realização do diagnóstico da doença.