Labrune's Syndrome Presenting With Stereotypy-Like Movements and Psychosis: A Case Report and Review.

Labrune's syndrome, or leukoencephalopathy with brain calcifications and cysts (LCC), is a rare genetic syndrome with variable neurological presentations. Psychiatric manifestations and involuntary movements are uncommonly reported. We report the case of a 19-year-old female, initially diagnosed with Fahr's syndrome, who presented to us with acute psychosis, abnormal behavior and involuntary movements. Her brain computed tomography showed extensive bilateral intracranial calcifications without cysts. Genetic testing detected two compound heterozygous variants, NR_033294.1 n.*9C>T and n.24C>T, in the SNORD118 gene, confirming the diagnosis of LCC. We discuss the expanding phenotypic spectrum of LCC and provide a literature review on the current diagnosis and management of this rare syndrome.

Pyoderma gangrenosum and cobalamin deficiency in systemic lupus erythematosus: a rare but non fortuitous association.

BACKGROUND: Pyoderma gangrenosum (PG) is an uncommon, idiopathic, ulcerative neutrophilic dermatosis. In many cases, PG is associated with a wide variety of different disorders but SLE in association with PG is relatively uncommon. In this article we present the case of a middle aged patient with PG as the initial clinical presentation of SLE. We also provide a brief review of cobalamin deficiency which occurred in our patient and evidence-based management options. CASE PRESENTATION: A 35 years old man presented with a 5 month history of debilitating painful lower limb and scrotal ulcers. This was associated with polyarthralgia and morning stiffness involving both hands. He also complained of swallowing difficulties. He had unintentional weight loss of 10 kg and fatigue. Physical examination revealed alopecia, multiple cervical lymphadenopathies, bilateral parotid gland enlargement and atrophic glossitis. There was Raynaud's phenomenon noted over both hands and generalised hyper-pigmented fragile skin. Laboratory results disclosed anaemia, leukopenia, hyponatraemia and hypocortisolism. Detailed anaemic workup revealed low serum ferritin and cobalamin level. The autoimmune screen showed positive ANA, anti SmD1, anti SS-A/Ro 52, anti SSA/Ro 60, anti U1-snRNP with low complement levels. Upper gastrointestinal endoscopy with biopsies confirmed atrophic gastritis and duodenitis. Intrinsic factor antibodies and anti-tissue transglutaminase IgA were all negative. Punch biopsies of the leg ulcer showed neutrophilic dermatosis consistent with pyoderma gangrenosum. Based on the clinical findings and positive immunologic studies, he was diagnosed as systemic lupus erythematosus. His general condition improved substantially with commencement of corticosteroids, immunosuppressants and vitamin supplements. CONCLUSIONS: We report a case of PG as the first manifestation of SLE which was treated successfully with immunosuppressants and vitamin supplements. Our report highlighted the need to consider connective tissue diseases such as SLE in a patient presenting with PG in order for appropriate treatment to be instituted thereby achieving a good outcome.

Knowledge of Acute Stroke Management Among Healthcare Professionals: Development and Validation of Acute Stroke Management Questionnaire (ASMaQ).

BACKGROUND: Around 15.0% of all strokes occurred in hospitalised patients and studies showed significant delay in the stroke recognition and lack of awareness on thrombolytic therapy for acute ischaemic stroke (AIS) which lead to higher mortality for in-hospital stroke. We aimed to develop and validate a new instrument known as acute stroke management questionnaire (ASMaQ) to evaluate the awareness of healthcare professionals in managing acute ischaemic stroke cases. METHODS: This study consisted of 3 steps; the formulation of ASMaQ draft, content validation and construct validity. A total of 110 questions were drafted with 5-point Likert scale answers. From the list, 31 were selected and subsequently tested on 158 participants. The results were analysed and validated using exploratory factor analysis on SPSS. Components were extracted and questions with low factor loading were removed. The internal consistency was then measured with Cronbach's alpha. RESULTS: Following analysis, 3 components were extracted and named as general stroke knowledge, hyperacute stroke care and advanced stroke management. Two items were deleted leaving 29 out of 31 questions for the final validated ASMaQ. Internal consistency showed high reliability with Cronbach's alpha of 0.82. Our respondents scored a total cumulative mean of 113.62 marks or 66.6%. A sub analysis by occupation showed that medical assistants scored the lowest in the group with a score of 57% whilst specialists including neurologists scored the highest at 79.4%. CONCLUSION: The ASMaQ is a newly developed and validated questionnaire consisting of 29 questions testing the respondents' acute stroke management knowledge.