1.
[ADCY5-associated dyskinesia in young children: a case report of a family and an updated review].
Aguilera-Nieto, L, Ferrero-Turrión, J, Mora-Ramírez, MD, Calvo-Medina, R, Ruiz-García, C, Ramos-Fernández, JM
Revista de neurologia. 2020;(2):69-73
Abstract
INTRODUCTION Dyskinesia of the ADCY5 mutation is a rare movement-onset disorder in childhood. It is characterized by isolated chorea movements or associated with myoclonus and dystonia affecting the limbs, neck and face. The low number of patients and families still does not allow an adequate genotype-phenotype relationship. AIMS The case of a child with movement disorders of early onset is presented in a family with three generations of affected members. An updated review of the casuistry and management of this rare disease is made. CASE REPORT A 6-year-old boy referred for language delay and hyperactivity. After six months of follow-up he begins to show chorea movements of predominantly facial and limb roots, especially when waking up. At one year of follow-up, generalized chorea at rest with orofacial involvement and awkward gait begins to show. His family history includes his mother, grandfather, maternal uncle and cousin, who were diagnosed with Meige's syndrome (oromandibular dystonia and periorbital muscles) with choreiform-like movement disorders without affiliation since childhood. The brain study by MRI showed no alterations. A clinical exome targeting movement disorders was performed that discovered the pathogenic mutation in the ADCY5 gene causing autosomal familial dyskinesia. CONCLUSION The c.1126G>A p.A376T mutation shows a natural history with a non-progressive clinical phenotype in three generations of affected members, with childhood debut and response to guanfacine treatment.
2.
Scurvy: still a threat in the well-fed first world?
Ceglie, G, Macchiarulo, G, Marchili, MR, Marchesi, A, Rotondi Aufiero, L, Di Camillo, C, Villani, A
Archives of disease in childhood. 2019;(4):381-383
Abstract
We report three cases of scurvy in previously healthy children referred to us for leg pain and refusal to walk. All children had no significant medical history, symptoms had started months before and subtly advanced. Two of them presented with gingival hyperplasia and petechiae, another one reported night sweats and gingival bleeding in the past few weeks. Two had vitamin D deficiency, and all had microcytic anaemia (in one case requiring transfusional support). A nutritional screening revealed low or undetectable levels of ascorbic acid. This, along with the clinical and radiological findings, led to a diagnosis of scurvy. Vitamin C supplementation was started with rapid improvement of the children's clinical condition. Scurvy is a rare disease in the 'first world', but there are anecdotal reports of scurvy in children without any of the known risk factors for this condition. In our cases, a selective diet was the only risk factor.
3.
Gabapentin for painful legs and moving toes syndrome.
Villarejo, A, Porta-Etessam, J, Camacho, A, González De La Aleja, J, Martínez-Salio, A, Penas, M
European neurology. 2004;(3):180-1