Article type: Case report
Article title: A 24-year-Old Male with Marden–Walker Syndrome and Epilepsy: Case Report
Journal: Neurology India
Year: 2023
Authors: Jamir Pitton Rissardo, Ana Letícia Fornari Caprara, Michele Rechia Fighera, Renan Luiz Tamiozzo
E-mail: jamirrissardo@gmail.com
ABSTRACT
We report a 24-year-old male with blepharophimosis, psychomotor retardation, brachycephaly, microstomia, immobile face, high arched palate, single palmar crease, kyphoscoliosis, talipes equinovarus, inguinal hernia, pyloric stenosis, recurrent infections, bilateral camptodactyly, wide-set eyes, decreased muscle mass, hypotonia, exotropia, and ptosis in the left eye, growth retardation, multiple congenital contractures, and hyporreflexia. Contractures improved with aging, but intellectual disability and blepharophimosis remained. He also presented epilepsy, outbursts of laughter, and predisposition to drug adverse effects (skin lesions with carbamazepine and secondary parkinsonism).
Keywords: Blepharophimosis, epilepsy, psychomotor retardation
Full text available at:
DOI
10.4103/0028-3886.383870
Citation
Rissardo JP, Fornari Caprara AL, Fighera MR, Tamiozzo RL. A 24-year-Old Male with Marden–Walker Syndrome and Epilepsy: Case Report. Neurol India 2023;71:767-71.
Figure 1: Proband development throughout the years. The appearance of the patient with 3 mo, note the brachycephaly, thin hair, blepharophimosis, multiple joint contractures, arachnodactyl, y and camptodactyly (a). Five yo, genu valgum, decreased muscle mass, and talipes equinovarus (b and c). Six yo, focal seizure with impaired awareness, with progression to bilateral tonic movements (d and e). Eight yo, immobility of facial muscles, low-set simple and prominent ears, exotropia, unilateral ptosis, depressed nasal bridge, smallmouth, thin upper lip, and oral candidiasis/angular cheilitis (f)
Figure 2: MWS features in the 24 yo patient. Dysmorphic face with arching of eyebrows, blepharophimosis, left exotropia, left ptosis, and ocular hypertelorism (a). Anterior (b), lateral (c), and posterior (d) view of the patient; note hyperchromic macules in both lower legs, which are residual lesions due to carbamazepine adverse reaction in 2013. Hairless in the armpit (e). Dorsal (f), palmar (g), and medial (h) view of the patient hands, note onychomycosis, autoaggressive signs, ulnar deviation, contractures, camptodactyly, and absent flexion creases of the fingers
Table 1: Case reports of adult patients with Marden-Walker syndrome
Table 2: Case reports of patients with Marden.Walker syndrome who developed seizures