António Guimarães

Traumatic pseudoaneurysm of the superficial temporal artery: case report

A 26 year-old woman suffered a blunt head injury on the left temporal area and developed an arteriovenous fistula with a pseudoaneurysm on the superficial temporal artery. These fistulas are rare and usually associated with pseudoaneurysms, most commonly in the frontal arterial branch. The aneurysms generally appear late after trauma and present as a pulsatile painfully growing mass in the temporal region, associated with fremitus and bruit. The diagnosis is made by angiography and surgery is a very effective treatment.

The peripheral neuropathy in Machado-Joseph disease

SummaryPeripheral nerve biopsies were taken from 11 patients with Machado-Joseph disease (MJD), a heredodegenerative disease within the group of autosomal dominant ataxias. On the basis of the clinical symptoms, 2 patients were found to suffer from type I, 4 from type II and 5 from type III. All cases shared the same pathological features, which consisted of a reduction in density of myelinated and unmyelinated fibres and an increase in endoneurial collagen. It was also observed that some Schwann cells were not related to axons, whilst others showed numerous budding processes. The intensity of the changes varied considerably: it was mild in type I and II and severe in type III. Peripheral nerve changes in MJD are compared with those previously described in other forms of heredo-ataxias. It is concluded that involvement of peripheral nerves is a significant feature in this group of diseases and that peripheral nerve biopsy could be useful in the identification of the subtypes of MJD.

Freezing of gait--first motor manifestation in late infantile variant neuronal ceroid lipofuscinosis.

Freezing of gait is generally seen in adults with degenerative or vascular parkinsonism [1], being very uncommon in infants or children. Neuronal ceroid lipofuscinoses (NCL) comprise a large group of neurodegenerative lysosomal disorders clinically characterized by progressive loss of vision, psychomotor deterioration, epilepsy and early death [2]. Historically, classification has been based on age of onset, ultrastructural morphology of the storage material showed by electron microscopy and genetic defect [3]. In CLN6 disease, late infantile variant, the onset is between18 months to 8 years [2]. The most important clinical features are seizures andmotor deterioration, followed by myoclonus, speech impairment, ataxia and mental regression [2]. Here we present a boy with CLN6 disease and freezing as first motor symptom. The 8 year-old boy of Portuguese descent was born of nonconsanguineous parents, after unremarkable gestation and delivery. He had normal developmental milestones apart from a moderate delay in expressive language acquisition. By the age of 3 years he presented multiple generalized tonic clonic, myoclonic and atypical absences seizures. His epilepsy was refractory to treatment, despite adequate trials of multiple antiepileptic drugs. At 4 years he developed freezing of gait, in the absence of other parkinsonian signs. Freezing would appear when starting to walk, going through narrow passages or walking in open spaces (video segment one). All by himself he learned strategies to overcome freezing, like flexing his thigh when starting to walk (video segment one). He presented rapid motor deterioration and, a month later, was unable to walk without help. By that time he had a complex gait disorder, characterized by a mixture of freezing, apraxia, ataxia and postural instability (video segment two). Simultaneously visual impairment was detected. His condition declined over the years with language regression, blindness and appearance of pyramidal signs (spasticity, extensor plantar response) (video segment three). For a year he has his seizures controlled. He is currently bedridden, has almost no communication skills, and is being fed through a percutaneous gastrostomy.

Estudo retrospectivo da doença de Creutzfeldt-Jakob diagnosticada no norte de Portugal entre 1993-2002: características demográficas, clínicas e neuropatológicas

INTRODUCAO E OBJETIVO: Descricao das caracteristicas demograficas, clinicas e neuropatologicas de 11 doentes com doenca de Creutzfeldt-Jakob (DCJ). METODO: Revisao clinica e neuropatologica de doentes com DCJ diagnosticados entre 1993 e 2002 em hospitais do Norte de Portugal. RESULTADOS: Foram identificados 11 doentes (4 do sexo feminino; idade media de inicio dos sintomas, 64 anos; media de duracao da doenca, 8 meses). Todos apresentaram sindrome demencial progressiva associada a mioclonias, sendo a sindrome cerebelar a forma de apresentacao inicial em quatro deles. O estudo neuropatologico revelou sempre espongiose e gliose reativa associada a perda neuronal. O estudo imunocitoquimico para proteina prionica (PrP) foi positivo nos oito casos em que foi executado. CONCLUSAO: O grupo de doentes descritos constitui uma serie clinica representativa da heterogeneidade de fenotipos possiveis da DCJ esporadica. O estudo neuropatologico e ainda indispensavel para o diagnostico definitivo da doenca.