ABSTRACT
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.
Subject(s)
Child, Preschool , Humans , Male , Botulinum Toxins , Brain , Dystonia , Gait , Globus Pallidus , Heel , Iron , Magnetic Resonance Imaging , Muscle Spasticity , Muscles , Neurodegenerative Diseases , Pantothenate Kinase-Associated Neurodegeneration , Range of Motion, ArticularABSTRACT
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.
Subject(s)
Humans , Case Reports , Tourette Syndrome , Pantothenate Kinase-Associated NeurodegenerationABSTRACT
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.
Subject(s)
Humans , Neuroaxonal Dystrophies , Pantothenate Kinase-Associated NeurodegenerationABSTRACT
Los síndromes de neurodegeneración asociada al hierro son una causa secundaria importante de extrapiramidalismo (1). De aparición entre los 6 y 40 años, se asocian además a cambios comportamentales y demencia (2). La base fisiopatológica son los depósitos de hierro a nivel ganglio basal. De estas enfermedades, la más frecuente es el déficit de pantotenato quinasa (PKAN por su siglas en inglés), constituyendo más del 50% de los casos de esta enfermedad. Se han descrito 2 formas de presentación típica o temprana, y atípica o tardía2. Se reportan a continuación dos casos: uno de presentación típica y otro de presentación atípica, diagnosticados en el hospital San Ignacio de Bogotá, Colombia.
Neurodegenerations associated with iron deposites are an important secondary cause extrapiramidalism. Their onsets are between 6 and 40 years, and are associated with behavioral changes and dementia. The pathophysiological bases are iron deposits at the basal ganglia. Of these diseases, the most frequent is Pantothenate kinase associated neurodegeneration (PKAN by its acronym), which constitutes over 50% of cases of the disease. Two forms of presentation have been described: typical (early onset) and atypical (late onset). We report two cases in the following: one typical and one atypical presentation, both diagnosed in San Ignacio Hospital in Bogotá, Colombia.