Annals of the Child Neurology Society最新文献

This teenaged girl with a Chiari malformation type III that was diagnosed and surgically repaired at birth presented with an 8-year history of involuntary movements of the left arm during right-handed tasks (Video 1). These mirrored movements interfered with fine motor skills such as writing, grooming, and dressing. She denied visual changes, nausea, vomiting, or developmental regression. Her neurological examination revealed involuntary left-hand movements during right-hand activity (Video 1), decreased vibratory sensation in her arms and legs, and impaired tandem gait. Magnetic resonance imaging showed a repaired occipital encephalocele, severe untreated ventriculomegaly, and a syrinx extending from C4 to L1 (Figure 1).

Mirror movements are involuntary movements that replicate voluntary actions of the contralateral limb and are most often seen in the arms [1]. They represent a type of motor overflow and are considered pathologic when persistent beyond early childhood [2]. Proposed mechanisms include aberrant ipsilateral corticospinal projections, where motor fibers fail to decussate, as well as impaired interhemispheric inhibition, resulting in bilateral cortical activation during unimanual movement [3]. These abnormalities may reflect incomplete development of corticospinal and callosal pathways. Mirror movements are recognized in congenital and midline disorders such as Kallmann and Klippel–Feil syndromes [1, 3, 4] but are rarely reported in association with Chiari malformation type III. This patient underscores the importance of a detailed neurological examination in individuals with congenital hindbrain anomalies and highlights how structural disruption of motor systems may manifest as clinically observable motor overflow.

Aysha Arshad: writing – original draft, writing – review and editing, visualization. John R. Crawford: supervision, writing – review and editing, conceptualization, visualization.

Written consent was obtained from the parent and patient before submission.

John R. Crawford, MD, MS, serves as an associate editor of Annals of the Child Neurology Society.

The ketogenic diet (KD) is a high-fat, low-carbohydrate, adequate-protein diet used for a century to treat drug-resistant epilepsy. It has relatively mild adverse effects. We highlight a patient who developed severe gastrointestinal (GI) symptoms related to a chylolymphatic mesenteric cyst (CMC) after KD initiation.

This boy was born at 39 weeks weighing 3490 g after an uneventful term gestation. Growth and development were initially appropriate. At 6 months of age he developed seizures manifested by episodes of right head-turning, rightward gaze deviation, impaired responsiveness, sometimes with chewing movements, decreased tone on the left, and/or shaking of the right extremities. These episodes had an ictal electrographic correlate with a diffuse onset but better evolution on the right on continuous video electroencephalography (EEG). Interictally, EEG showed epileptiform discharges in multiple areas on the right, resulting in a diagnosis of focal seizures with impaired consciousness. An epilepsy gene panel identified a heterozygous, paternally inherited, autosomal recessive, pathogenic variant in the biotinidase gene (BTD) (c.1368A>C, p.Q456H). A chromosomal microarray showed a maternally inherited, 329 kb duplication within 11p14.3 (arr[GRCh37]11p14.3(21897259_22226105)x3 mat). Brain magnetic resonance imaging was normal.

Levetiracetam, zonisamide, and clobazam failed to control seizures. Biotin therapy was not trialed. Oxcarbazepine reduced seizures but was limited by diarrhea and poor sleep. At 22 months, he began a 3:1 KD but was discharged on 2:1 due to acidosis and hypoglycemia. His abdominal examination was unremarkable. His seizure burden decreased from two to four seizures per day to a few times per week within the first 3 months, during which his KD ratio was gradually increased to 2.75:1.

Three months after starting the KD, he experienced intermittent severe abdominal pain, vomiting, and diarrhea for 5 days. An abdominal computed tomography scan revealed a predominantly hypoattenuating soft tissue mass measuring 35 × 43 × 41 mm arising from the root of the mesentery, causing mass effect on small bowel loops and abutting on branches of the superior mesenteric vein and artery with mesenteric lymphadenopathy (Figure 1). He underwent exploratory laparotomy with resection of a 5 cm chylous-appearing cystic mass in the mesenteric root, along with an 11 cm segment of adjacent small bowel, followed by re-anastomosis (Figure 2). Postoperatively, symptoms resolved, and tolerance to a 2.75:1 KD improved. His last seizures occurred immediately after surgery. He was weaned off oxcarbazepine 10 months after diet initiation, and he was weaned off the diet 2 years after surgery. Now 7 years of age, he remains seizure-free with near-normal development and no cyst recurrence. He has had three normal EEGs, including one overnight on the diet and one after diet discontinuation.

We classified the abdominal mass in o