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[Microcephalus as the reason for visiting a regional referral neuropaediatric service]
P Lalaguna-Mallada1, B Alonso-del Val, S Abió-Albero
1Unidad de Neuropediatría, Hospital Universitario Miguel Servet, Zaragoza, España.
Insights
Microcephalus is linked to prenatal encephalopathies, with mental retardation and cerebral palsy being common outcomes. Individual assessment and neuroimaging are crucial for diagnosis and management.
Area of Science:
- Neurology
- Pediatrics
- Genetics
Context:
- The initial clinical encounter for pediatric health concerns often involves developmental assessments.
- Microcephalus, a condition characterized by an abnormally small head circumference, requires thorough evaluation.
Purpose:
- To analyze the clinical records of children presenting with microcephalus.
- To identify associated conditions, origins, and diagnostic approaches for microcephalus.
Summary:
- A 12-year review of 6257 children found microcephalus in 0.92% (58 cases).
- Encephalopathy, often prenatal in origin, was present in 65.5% of cases, frequently associated with mental retardation and cerebral palsy.
- Neuroimaging proved beneficial in 43.3% of diagnostic studies.
Impact:
- Highlights the spectrum of prenatal encephalopathies associated with microcephalus.
- Emphasizes the importance of individualized clinical evaluation and neuroimaging for diagnosis.
- Provides data on the prevalence and associated conditions of microcephalus in a pediatric population.
Introduction:
The first contact between the patient and clinician takes place when the former visits because of some health problem.
Patients And Methods:
We carried out a review of the clinical records of children who had visited the Neuropaediatric Service because of, among other reasons, an isolated or associated microcephalus over a period of 12 years and 9 months. Factors that were considered included whether or not there was a cephalic perimeter below p3 and evidence of encephalopathy, as well as its prenatal, perinatal or postnatal origin, functional diagnoses and the aetiological diagnosis.
Results:
In 58 cases (0.92%) out of a total number of 6257 children the visit was due to microcephalus. The mean age at the last visit was 3.9 years. In five children (8.6%) the cephalic perimeter was not below p3. No encephalopathy was found in 20 patients (34.4%) and 38 (65.5%) were seen to have encephalopathy, 37 with a prenatal origin: nine genetic, three disruptive and 22 unspecified. Functional diagnoses were as follows: mental retardation in 29 patients, infantile cerebral palsy in 18, autistic spectrum in four and epilepsy in four. Neuroimaging studies aided diagnosis in 13 cases, i.e. 43.3% of those carried out.
Conclusions:
Visits to the doctor because of microcephalus, as well as in normal children, include the whole range of prenatal encephalopathies and are associated, ordered according to the frequency of occurrence, with mental retardation and with infantile cerebral palsy. Individual evaluation and clinical progression allow the orientation of each case. Neuroimaging is the most useful complementary examination for diagnostic purposes.
