الفهرس 
INTRODUCTIONOnly 14 pages are availabe for public view
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Abstract
Although microcephaly is a significant neurologic symptom, its definition varies, and the severity of affected children’s cases is not consistently assessed. The standard definition of microcephaly is a head circumference that is more than two standard deviations below average for the gender and age.
An extensive history and physical examination may point to a diagnosis or call for more testing. Neuroimaging, metabolic, or genetic testing may be used in further diagnostic analysis.
The present study aimed to study the clinical and radiological characteristics of a cohort of children with microcephaly attending the Neurology outpatient clinic at Alexandria University Children’s Hospital, AUCH.
This was a retrospective cohort study conducted on 50 children diagnosed with microcephaly younger than 18 years at the Pediatric Neurology outpatient clinic of AUCH from the period of June 2015 to June 2021.
Among the total 50 microencephaly children, males were more predominant than females (58% vs 42%, respectively). Most of the children were from rural areas, representing 61%. The patients’ ages ranged from 1 to 18 years with a mean ± SD of 6.30 ± 3.75 years. Most of the children were less than 10 years old.
As regards the perinatal risk factors, the majority of patients have not had any pregnancy history (68%), while 10 patients (20%) had a history of IUGR, four patients (8%) had a history of maternal drug consumption, and two patients (4%) had a history of other complications. Only 12 patients (24%) had a history of NICU admission. In addition, most of the patients (76%) were born at term, while 11 patients (22%) were pre-term and only one patient (2%) was post-term.
As regards epilepsy, 33 patients (66%) had epilepsy in the form of GTC, myoclonic seizures, tonic convulsions, focal seizures, infantile spasm, and non-motor focal seizures, representing 36%, 12%, 4%, 20%, 4%, and 2%, respectively.
Seventeen patients (34%) had behavioral problems, in the form of autism (10%), ADHD (10%), aggressive behavior (6%), social isolation (2%), excessive crying at night (4%), hyperactivity (4%), violence and cruelty to animals (2%), severe irritability (2%), self-injurious behavior (4%), hyperphagia (4%), and hypersensitivity to touch (4%), suggesting that microcephaly can be associated with a large critical spectrum of behavioral problems.
The OFC ranged from -12.50 to -3.0 cm with a mean ± SD of -5.19 ± 1.95 cm. The OFC ranged from -3 to < -5 were reported in 26 patients (52%), from -5 to -10 in 22 patients (44%), and >-10 in two patients (4%).
The most frequent neuropsychological disorders were muscle tone abnormalities (84%), mostly hypertonia (64.3%), followed by language disorders in 39 patients (78%), distributed as no speech in 17 patients (43.6%), delayed speech in 19 patients (48.7%), dysarthria in two patients (5.1%), and just vocalization in one patient (2.6%). Other frequently reported neuropsychological disorders were intellectual disability (46%), ocular disorders (38%), skeletal problems (38%), dysmorphic features (36%), cranial nerves disorders (22%), gait abnormalities (16%), and muscle weakness (42%).
Neuroimaging studies revealed that among the patients who performed neuroimaging scans, most of the microcephalic children had abnormal findings on imaging (68%).
Genetic tests showed abnormal/syndromic results in 5 out of 21 patients (23.8%) who performed genetic testing.
Among the 18 patients who performed metabolic tests, three patients (6%) showed abnormal lactate / pyruvate-serum tests and only one patient (2%) showed abnormal ammonia-plasma tests.
Finally, only one patient (2%) had a history of maternal TORCH exposure.
Overall, we came to the conclusion that children with microcephaly have a higher risk of epilepsy, as well as a wide range of behavioral issues and developmental difficulties. Both neuroimaging and genetic testing are important tools in evaluating children with microcephaly.