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Opsoclonus-myoclonus ataxia syndrome (OMAS), also known as Kinsbourne syndrome, is a rare disorder that presents with myoclonus, ataxia, abnormal eye movements, irritability, and sleep disruptions, often in young children. We report a case of an infant barely 6 months old, with no significant past medical history, who presented to the emergency department with tremors, jerking motions of the head and arms, and rapid eye movements. After an extensive workup, she was found to have a neuroblastoma, which was subsequently surgically removed via thoracotomy. Despite an initial improvement in symptoms post-resection, the patient's symptoms recurred. She was subsequently treated with dexamethasone, intravenous immunoglobulin (IVIG), and rituximab. After treatment, the patient was noted to have mild global developmental delays but was otherwise well. This case report highlights the rare occurrence of OMAS in an infant barely 6 months old at diagnosis. Using the PubMed database, a systematic review was conducted to highlight the clinical presentation, diagnosis, and management of OMAS.
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Myasthenia in the infancy and toddler age group is rare and often presents a challenge to treating pediatric neurologists. Our report addresses the challenges encountered when distinguishing myasthenia in infants and toddlers from similar illnesses, as well as the differentiation between congenital myasthenia, transient myasthenia, and autoimmune myasthenia. We present four cases of myasthenia between the ages of 10 and 30 months. The diagnosis and management of these cases were challenging due to the variability in clinical presentation. Four cases of myasthenia were diagnosed, with three having autoimmune myasthenia and one having congenital myasthenic syndrome. One patient initially tested negative for acetylcholine receptor antibodies, but later tested positive after 4 months and had a rare facial diplegia finding. The patient with congenital myasthenic syndrome had a novel genetic mutation, DPAGT1 homozygous variants, and also had false positive acetylcholine receptor antibodies. These cases highlight the importance of genetic testing for all infants and toddlers suspected of having myasthenia.
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Background In clinical settings, direct observation (DO) with feedback is an effective method to assess and improve learner performance. One tool used for DO is the mini-clinical evaluation exercise (Mini-CEX). We conducted a study to assess the effectiveness and feasibility of Mini-CEX for medical students at Aga Khan University, Karachi. Methods Utilizing a purposive sampling technique, a total of 199 students in six core clerkships of Years 3 and 4 were selected for this study. Participating faculty underwent training workshops for use of Mini-CEX and feedback strategies. Each student was assessed twice by one faculty, using a modified version of the Mini-CEX, which assessed four domains of clinical skills: Data Gathering, Communication, Diagnosis/Differential, and Management Plan and Organization. Feedback was given after each encounter. Faculty and students also provided detailed feedback regarding the process of DO. Data were analyzed using Statistical Package for Social Sciences (SPSS) version 26 (IBM Corp., Armonk, NY, USA), with categorical variables arranged as frequencies and percentages. The Chi-squared test was used for further statistical analyses, and a P-value of < 0.05 was considered statistically significant. Effectiveness was assessed via a change in student performance between the first and second Mini-CEX, and feasibility was assessed via qualitative feedback. Results We obtained three sets of results: Mini-CEX forms (523), from which we included a total 350 evaluations for analysis, 216 from Year 3 and 134 from Year 4, and feedback on DO: student (70) and faculty (18). Year 3 students performed significantly better in all foci of the Mini-CEX between the first and second assessment (P ≤ 0.001), whereas in Year 4, significant improvement was limited to only two domains of the Mini-CEX [Communication of History/Physical Examination (P = 0.040) and Diagnosis/Differential and Management Plan (P < 0.001)]. Students (65.7%) and faculty (94.4%) felt this exercise improved their interaction. 83.3% faculty recommended its formal implementation compared to 27.1% of students, who reported challenges in implementation of the Mini-CEX such as time constraints, logistics, the subjectivity of assessment, and varying interest by faculty. Conclusion Direct observation using Mini-CEX is effective in improving the clinical and diagnostic skills of medical students and strengthens student-faculty interaction. While challenges exist in its implementation, the strategic placement of Mini-CEX may enhance its utility in measuring student competency.
