Case 450 · ICHD-3 7.1.3
7.1.3 Headache attributed to intracranial hypertension secondary to chromosomal disorder
- Origin
- Synthetic
- Language
- English — also available in German
- Contributed by
- Imported case — HeadAI synthetic vignettes (de Andrade JBC, da Silva Costa TB, Vasconcelos JL, Lopes TLM, Balsells MD, Cristofolini VL, Querobin SO, Filho FMR. Validation of an AI-based platform for structured diagnosis of headache disorders using ICHD-3 criteria. BMC Neurology 25, 489 (2025). doi:10.1186/s12883-025-04473-1. Dataset: Andrade J. Head.AI Platform. Mendeley Data, V2 (2025). doi:10.17632/4fms6cw2s5.2)
Anamnesis
Identification: Sex/Age: Female, 8 years old
History: Genetically confirmed Down syndrome (trisomy 21)
Previous History: Global delay in neuropsychomotor development, hypothyroidism under treatment
History of Present Illness (HPI): Main symptom: Daily headache for 3 weeks
Characteristics of the pain:
Location: Bifrontal
Character: Continuous pressure
Intensity: 6-7/10
Worsens: In the morning and when lying down
Associated symptoms:
Occasional vomiting (more frequent in the morning)
Progressive diplopia
Increased irritability
Physical/Neurological Examination:
General: Short stature, phenotype compatible with trisomy 21
Neurological:
Bilateral papilledema on fundoscopic examination
Bilateral sixth cranial nerve palsy
Normal deep tendon reflexes
No motor or sensory deficits
Complementary Exams:
Magnetic Resonance Imaging of the Brain:
Collapsed ventricles
Absence of expansive lesions
Partial empty sella
Lumbar Puncture:
Opening pressure: 32 cmH2O
Clear cerebrospinal fluid, no cytochemical alterations
Genetic: Previous confirmation of trisomy 21
Report this case — e.g. suspected re-identification risk.