Patient With Lipoid Proteinosis Presenting With Sudden-Onset Lower Limb Weakness: A Rare Case

Lipoid proteinosis (LP), or Urbach-Wiethe disease, is an infrequent autosomal recessive disorder typified by hyaline material deposition in diverse tissues, including the skin, mucous membranes, and internal organs. This case report addresses an unusual presentation of LP in a 25-year-old male, whose initial symptom was sudden-onset left lower limb weakness. This deviation from the typical dermatological and laryngeal manifestations prevalent in LP compels us to consider LP as a potential causative factor in neurological deficits. Physical examination revealed motor weakness in the left lower limb with several dermatological manifestations. Laboratory tests indicated potential thyroid, liver, and urinary tract pathologies. Brain imaging studies revealed bilateral mesial temporal lobe calcifications consistent with LP with associated cortico-subcortical infarcts and hemorrhagic transformation. Additionally, foraminal disc protrusion at L5-S1 in the patient's back MRI suggested nerve compression contributing to limb weakness. This patient's sudden-onset left lower limb weakness accompanied by imaging findings of cortical and subcortical abnormalities aligns with the spectrum of neurological manifestations associated with LP but is less commonly reported. Moreover, the disturbed liver and thyroid blood tests in this patient suggest a potential link between LP and thyroid and liver pathologies, which needs further investigation. This case illustrates that motor weakness, potentially due to cerebral infarcts and intracerebral hemorrhage, is a possible complication of LP. Further research is necessary to confirm and understand the phenomenology of this complication.