Diagnostic difficulties of paroxysmal symptoms in a boy with Parry-Romberg syndrome

Abstract

Parry-Romberg syndrome is characterized by progressive unilateral facial atrophy affecting subcutaneous tissue, cartilage and bone structures. Headache attacks and epilepsy are commonly associated with this syndrome but the underlying pathophysiology is still unknown. A case of a 12-year-old boy with Parry-Romberg syndrome and syringomyelia suffering from severe headache attacks and epileptic seizures is reported herein. Headache attacks were associated with bilateral autonomic symptoms and hyperventilation and were usually followed by complex partial and sometimes by secondary generalized tonic seizures. Detailed neuroimaging examinations were performed (magnetic resonance imaging [MRI] of the head, orbits, and spinal cord, MR angiography, and MR spectroscopy of the cerebellum). The EEG pattern revealed localized discharges contralaterally to the affected side. Antiepileptic treatment with carbamazepine was instituted with minimal effect. Modification of treatment (replacement with oxcarbazepine) was successful. In the reported patient interesting correlation of headache attacks, autonomic symptoms and epileptic seizures was observed. Additionally we believe it is the first report of coincident syringomyelia and Parry-Romberg syndrome.

A review of Parry-Romberg syndrome

“…10,16,38,[69][70][71][72][73][74][75][76] Other associations include migraines, 10,61,77 that sometimes lead to hemiplegia, 78,79 aneurysms, 61,80-83 brain atrophy, 38,71,74,75,84 limb atrophy, 2,10,11,85 intracranial vascular malformations, and others (Table II). [86][87][88][89][90][91][92][93][94][95][96][97] Imaging, other diagnostic modalities, and therapy. CT and magnetic resonance imaging (MRI) are the two most common modalities used in the diagnosis of the neurologic manifestations in PRS.…”

Nummular Headache: 2 Cases With Good Beta Blocker Responses and a Narrative Review

“…Headache is one of the most frequently reported neurological symptoms . Some cases of PRS have also been reported with accompanying autonomic symptoms . Therefore, PRS and NH with focal trophic changes might have an overlapping pathogenesis in consideration of the similar clinical manifestations, including headache, cutaneous atrophy innervated by the trigeminal nerve, and accompanying autonomic symptoms.…”

Coexistence of Parry-Romberg syndrome with homolateral segmental vitiligo

“…Parry-Romberg syndrome and acquired homolateral segmental vitiligo are two distinct disease entities of unknown etiology characterized by an onset in children and young adults, rapid progression followed by a subsequent long period of stabilization, and dermatomal distribution [1, 2, 4, 11]. Acquired homolateral segmental vitiligo is described as localized amelanotic patches in dermatomal distribution, which do not cross the midline of the body.…”

“…Parry-Romberg syndrome (PRS) or progressive facial hemiatrophy was first described by Caleb Parry in 1825 and Moritz Romberg in 1846 [1, 2]. This disorder is characterized by slowly progressing acquired unilateral hemifacial atrophy, which affects subcutaneous tissue together with the muscles and underlying bones.…”

“…Also, trauma, viral infections, endocrine disorders, and alterations in brain lipid metabolism are believed to be associated with this disease. Progressive facial hemiatrophy is often described as coexisting with headache episodes, epilepsy (Jacksonian crises), and trigeminal neuralgia [2]. Ocular involvement in PRS is also often mentioned [5].…”