ABSTRACT
The syndromic group of hereditary spastic paraplegias has a heterogeneous clinical profile and a broad differential diagnosis, including neurometabolic disorders that are potentially treatable. This group includes 5,10-methylenetetrahydrofolate reductase deficiency, cobalamin C deficiency disease, dopamine responsive dystonia, cerebrotendinous xanthomatosis, biotinidase deficiency, GLUT1 deficiency syndrome, delta-e-pyrroline-carboxylase-synthetase deficiency, hyperonithinemia-hyperammonemia-homocitrullinuria syndrome, arginase deficiency, multiple carboxylase deficiency, and X-linked adrenoleukodystrophy. This review describes these diseases in detail, highlighting the importance of early diagnosis and effective treatment aiming at preserving functionality and quality of life in these patients. For the purpose of this study, we carried a non-systematic review on PUBMED, finding an initial sample of 122 papers; upon refining, 41 articles were found relevant to this review. Subsequently, we added review articles and works with historical relevance, totalizing 76 references. An adequate diagnostic workup in patients presenting with spastic paraplegia phenotype should include screening for these rare conditions, followed by parsimonious ancillary investigation.
Subject(s)
Homocystinuria , Spastic Paraplegia, Hereditary , Humans , Muscle Spasticity , Quality of Life , Spastic Paraplegia, Hereditary/diagnosis , Spastic Paraplegia, Hereditary/genetics , Spastic Paraplegia, Hereditary/metabolism , Vitamin B 12 Deficiency/congenitalABSTRACT
Introdução: Dissecção aneurismática da artéria carótida interna em seu segmento cavernoso é uma lesão incomum, assim como sua associação com hemorragia subaracnóidea. Esta descrição é relatada com traumatismo direto ou indireto da região cervical. Apresentamos paciente masculino de 26 anos submetido a cirurgia ortognática que evoluiu em pós operatório imediato, com paralisia de nervos oculares direitos (IIIº°, IVº° e Vº°) oftalmoplegia, sem quemose ou proptose e com hemorragia subaracnóidea. A angiografia revelou aneurisma dissecante da artéria carótida interna direita em seu segmento cavernoso. Na evolução, apresentou ressangramento e a opção de tratamento foi a embolização arterial com micromolas de platina. Extensa revisão da literatura foi realizada, sendo proposto tratamento endovascular como opção terapeutica.
Introduction: Aneurysmal dissection of the internal carotidartery in the cavernous segment is an uncommon lesion,as well as the association with subarachnoid hemorrhage.Its description is related to direct or indirect trauma of theneck region. We report on a 26 year-old male patient whopresented in the imediate postoperative after an orthognathicsurgery with paralysis the right ocular cranial nerves (IIIº°, IVº ° and VIº°) with ophthalmoplegia, without chemosisor proptosis and with subarachnoid hemorrhage in thecranial tomography. Angiography disclosed a dissectinganeurysm of the right internal carotid artery in the cavernoussegment, presenting with rebleeding during his evolution. Thetherapeutic option was arterial embolization with platinummicrocoils. After extensive literature review, endovasculartreatment was suggested.
Subject(s)
Male , Aortic Dissection , Carotid Artery, Internal , Subarachnoid HemorrhageABSTRACT
Cerebrotendinous xanthomatosis is a treatable rare autossomal recessive disease characterized by lipid storage secondary to a sterol 27-hydroxylase deficiency in the formation of cholic and chenodeoxycholic acids. We describe two Brazilian brothers with cognitive impairement and chronic diarrhea. One of them also presents bilateral cataracts. Neurological findings were progressive walking deficit, limb ataxia and pyramidal signs. Both patients had bilateral Achilles tendon xanthomata. Magnetic resonance image showed signal alterations in cerebellar hemispheres. We describe these cases with molecular genetic analysis confirming diagnosis and comparing with previous literature. The CYP27A1 gene study showed a C1187T mutation on exon 6.
Subject(s)
Mutation , Steroid Hydroxylases/genetics , Xanthomatosis, Cerebrotendinous/genetics , Adult , Cholestanetriol 26-Monooxygenase , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Siblings , Xanthomatosis, Cerebrotendinous/complications , Xanthomatosis, Cerebrotendinous/diagnosisABSTRACT
Xantomatose cerebrotendínea é doença autossômica recessiva tratável causada pelo acúmulo de lipídeos por deficiência da enzima 27-esterol hidroxilase na produção de ácido cólico e deoxicólico. Descrevemos dois irmãos brasileiros com dificuldade cognitiva e diarréia crônica. Um deles apresentava catarata bilateral. Os achados neurológicos foram dificuldade progressiva para deambular, ataxia de membros e sinais piramidais. Ambos tinham xantomas de tendão aquileu bilateralmente. O exame de ressonância magnética revelou áreas de sinal hiperintenso em ambos os hemisférios cerebelares. Descrevemos os casos com diagnóstico genético comparando-os com a literatura. O estudo do gene CYP27A1 demonstrou a mutação C1183T no exon 6.
Subject(s)
Adult , Middle Aged , Humans , Male , Mutation , Steroid Hydroxylases/genetics , Xanthomatosis, Cerebrotendinous/genetics , Magnetic Resonance Imaging , Xanthomatosis, Cerebrotendinous/complications , Xanthomatosis, Cerebrotendinous/diagnosisABSTRACT
Ten percent of all strokes are due to spontaneous cerebral hemorrhages. They are associated to drugs (licit and illicit) in 9.5% of all cases in young adults. This is a case report of a 44-year-old man, without previous morbidities, who presented a sudden onset headache and arterial hypertension 24 hours after use of naphazoline as nasal decongestant. Cranial tomography showed right thalamus hemorrhage. Cerebral angiography showed no aneurisms, vascular malformations or vasculitis. No other risk factors were found during investigation in this patient and the stroke was attributed to naphazoline exposition.
Subject(s)
Cerebral Hemorrhage/chemically induced , Naphazoline/adverse effects , Nasal Decongestants/adverse effects , Stroke/chemically induced , Adult , Cerebral Hemorrhage/diagnostic imaging , Humans , Male , Stroke/diagnostic imaging , Tomography, X-Ray ComputedABSTRACT
Dez por cento de todos os eventos vasculares encefálicos são devido às hemorragias intracerebrais espontâneas, associados a drogas (lícitas e ilícitas) em 9,5% de todos os casos em adultos jovens. Relatamos o caso de um homem de 44 anos de idade, sem doenças prévias, que apresentou cefaléia súbita e hipertensão arterial 24 horas após o uso de congestionante nasal contendo nafazolina. A tomografia de crânio evidenciou hemorragia talâmica. Durante a investigação não foram encontrados outros fatores de risco e a hemorragia foi atribuída à exposição à nafazolina.