Abstract
Physicians caring for patients with rare diseases face unique challenges in managing symptoms, ordering diagnostic tests, and providing patients and families with anticipatory guidance. We describe the case of a toddler with overgrowth syndrome, and previously known ophthalmological and neurological findings, presenting with decreased level of consciousness (LOC) following a fall. We highlight the extensive workup undertaken in a patient with symptoms spanning multiple systems but lacking a unifying diagnosis. In this case, rapid whole exome sequencing identified a de novo CACNA1A gene mutation encoding a calcium channel subunit, located within chromosome region 19p13.13. We explore 19p13.13 Microdeletion Syndrome and compare our patient’s presentation to the cases described in the literature. Although our patient had several symptoms consistent with 19p13.13 Microdeletion Syndrome, others remain unexplained. This highlights the difficulty in determining a definitive diagnosis or treatment plan in the realm of rare diseases and emphasizes the need for further research into the disease process and development of novel therapies.
Highlights
Physicians caring for patients with rare diseases face unique challenges in managing symptoms, ordering diagnostic tests, and providing patients and families with anticipatory guidance
The patient’s past medical history was significant for global developmental delay, chronic overgrowth of undetermined etiology, retinal cone dysfunction, peripherally hypopigmented fundus, hypotonia, and autistic features. Specialists involved in his care included paediatric neurology, ophthalmology, endocrinology and medical genetics at multiple academic medical institutions, yet he lacked a unifying diagnosis
Upon presentation to the local community emergency department, the patient was tachycardic and required supplemental oxygen. He required intubation for decreased respiratory effort, and was transferred to a paediatric critical care unit (PCCU) at the nearest tertiary care centre, where he remained intubated for 10 days
Summary
Physicians caring for patients with rare diseases face unique challenges in managing symptoms, ordering diagnostic tests, and providing patients and families with anticipatory guidance. Paediatric neurology started the patient on phenytoin and levetiracetam following seizure in the PCCU.
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