Case 452 · 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: Gender/Age: Male, 12 years old
History: Turner syndrome (45,X) diagnosed at 3 years
Previous History: Short stature under treatment with growth hormone, surgically corrected coarctation of the aorta
History of Present Illness (HPI): Main symptom: Progressive headache for 1 month
Pain Characteristics:
Location: Holocranial
Character: Pulsatile
Intensity: 7/10
Worsening: Upon waking and with Valsalva maneuvers
Associated Symptoms:
Frequent dizziness
Pulsatile tinnitus
Intermittent blurred vision
2 episodes of projectile vomiting
Physical/Neurological Examination:
General: Height < P3, webbed neck, low hairline
Neurological:
Bilateral grade II papilledema
Incomplete left sixth cranial nerve palsy
Symmetrical and normoreactive reflexes
No motor or sensory deficits
Complementary Exams:
MRI + MR Angiography:
Slightly reduced ventricles
Absence of venous thrombosis
Partially empty sella turcica
Lumbar Puncture:
Opening pressure: 34 cmH2O
CSF with protein 25 mg/dL, normal glucose
Karyotype: Previous confirmation of 45,X
Report this case — e.g. suspected re-identification risk.