1.Aicardi syndrome with peripapillary staphyloma: A case report and review of literature.
Jessica Belle A. SY ; Roland Joseph D. TAN
Acta Medica Philippina 2022;56(10):81-86
Aicardi Syndrome (AS) is a rare X-linked congenital disorder traditionally characterized by a triad of dysgenesis of corpus callosum, seizures, and chorioretinal abnormalities. Patients often have severe psychomotor delay and shortened life expectancy. However, Aicardi syndrome is a clinically heterogeneous disorder. We present a case of a 14-year-old with the traditional triad of history of infantile spasm, complete agenesis of the corpus callosum, and chorioretinal abnormality but with peripapillary staphyloma and with no psychomotor delays. Based on the review of literature, this is the first reported case of AS in the Philippines, the first reported case of AS with peripapillary staphyloma, and is one of the 3 reported cases of AS with normal psychomotor development. There remains no factor that can prognosticate cognitive function in AS at present including genetic testing.
Aicardi Syndrome ; Spasms, Infantile
2.A rare case of spasmus nutans in an infant
Maria Isabel N. Umali ; Franz Marie O. Cruz
Acta Medica Philippina 2023;57(2):72-74
We report a case of an otherwise healthy 23-month-old boy who presented with nystagmus, head shaking, and
abnormal head posture suggestive of spasmus nutans. Neuro-ophthalmologic exam revealed bilateral, low-amplitude, high-frequency, horizontal, disconjugate nystagmus that was more prominent in one eye along with head shaking and a head tilt or face turn. The rest of the exam and the systemic physical examination were normal. Magnetic resonance imaging of the brain did not disclose optic pathway glioma, which has been reported to cause spasmus nutans-like disease. Electroretinogram (ERG) was also recommended to rule out occult retinopathies. However, it was not done due to unavailability of the appropriate corneal electrode for his age. Instead, close follow-up was advised to monitor spontaneous improvement or resolution, or until the child comes of age that he can undergo ERG. This case highlights the management approach and rationale of patients with presumed spasmus nutans. Recognition of the triad of spasmus nutans allows for quick diagnosis and more focused and efficient investigation.
pathologic nystagmus
;
infantile spasms
3.Prognostic factors of infantile spasms.
Journal of the Korean Child Neurology Society 1993;1(1):106-115
No abstract available.
Infant
;
Infant, Newborn
;
Spasms, Infantile*
4.A case of congenital CMV infection - related infantile spasm.
Chan Hoo PARK ; Se Hee HWANG ; Baeck Hee LEE ; Yong Seung HANG
Journal of the Korean Child Neurology Society 1993;1(2):152-155
No abstract available.
Infant
;
Infant, Newborn
;
Spasms, Infantile*
5.West Syndrome.
Journal of the Korean Child Neurology Society 2000;8(1):8-26
No abstract availabe.
Infant
;
Infant, Newborn
;
Spasms, Infantile*
6.Progress in treatment of infantile spasms.
Chinese Journal of Pediatrics 2006;44(4):277-279
Humans
;
Infant
;
Spasms, Infantile
;
therapy
7.Infantile Spasms during Acute Metabolic Decompensation in an Infant with Isovaleric Acidemia.
Journal of Clinical Neurology 2016;12(3):376-377
No abstract available.
Humans
;
Infant
;
Infant*
;
Infant, Newborn
;
Spasms, Infantile*
8.A clinical study on infantile spasms with ACTH therapy.
Se Hee HWANG ; Yong Seung HWANG
Journal of the Korean Pediatric Society 1992;35(4):459-469
No abstract available.
Adrenocorticotropic Hormone*
;
Infant
;
Infant, Newborn
;
Spasms, Infantile*
9.Genetic diagnosis of a child with Ohtahara syndrome.
Wang YING ; Ma YUPING ; Chen YUN
Chinese Journal of Pediatrics 2015;53(4):304-305