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Abstract Pycnodysostosis (PDO) is a rare genetic skeletal dysplasia. Due to its rarity and clinical heterogenicity, information about its uncommon features and complications is limited. One such complication is intracranial hypertension (IH), which can be managed acutely through lumbar drainage of cerebrospinal fluid (CSF). In this report, we present the case of a 12-year-old boy with known PDO and IH who presented with worsening headache and dizziness and underwent a therapeutic lumbar puncture (LP). Two days after the LP, he experienced increasing headache and nausea. A brain computed tomography (CT) scan revealed a left frontal epidural hematoma (EDH). He was managed expectantly, and a follow-up CT scan confirmed hematoma resolution. This case presents IH as a rare complication of PDO and presents an instance where an EDH developed following an LP, which is a rare occurrence. We conclude that if LP is considered for such patients, physicians should be vigilant for the possible occurrence of intracranial hemorrhage.
Alashkar et al. (Mon,) studied this question.