Table 1

Mode of presentation*

PresentationN (%)Additional information
 Family history of TS, prenatal genetic diagnosis2 (2%)
 Abnormal ultrasound scan18 (14%)Cardiac rhabdomyoma, single (n=2)Cardiac rhabdomyoma, single; parent affected by TS (n=1)
Cardiac rhabdomyomas, multiple (n=11)
Cardiac rhabdomyomas, multiple; parent affected by TS (n=1)
Cardiac rhabdomyomas, multiple; fetal arrhythmia (n=1)
Cardiac rhabdomyomas, multiple; intracranial lesion (n=1)
Enlarged cystic kidney (n=1)
 Other1 (1%)Rhythmic movements in utero, presumed seizures; epilepsy from birth
 Family history of TS prompted assessment and/or genetic testing8 (6%)
 Cardiac murmur or tachycardia5 (4%)Tachycardia at birth, echocardiography identified rhabdomyomas (n=1)
Murmur, echocardiography identified rhabdomyoma(s) (n=4)
 Skin lesions7 (6%)Hypopigmented macules (n=3)
Hypopigmented macules, poliosis (n=1)
Hypopigmented macules, facial angiofibromas, forehead plaque (n=1)
Facial angiofibromas (n=2)
 Seizures77 (62%)
 Intellectual disability1 (1%)
 Behavioural difficulties1 (1%)
 Neurological symptoms2 (2%)Headaches (subependymal giant cell astrocytoma) (n=1)
Limp and lip smacking (n=1)
 Other3 (2%)Abdominal distension, enlarged kidneys (polycystic kidney disease) (n=2)
School eye test, chance finding of astrocytic hamartoma (n=1)
  • * For cases presenting postnatally taken to be the symptom that first prompted the parents to seek medical advice.

  • Intracranial lesion excised after birth and histology showed giant cell astrocytoma.

  • Enlarged polycystic kidney excised at 7 weeks of age. Histology was consistent with renal cystic disease associated with TS. On ultrasound scanning the remaining kidney was of normal size with microcysts and small angiomyolipomas. Genetic testing identified a pathogenic missense mutation of the TSC2 gene and there was no evidence of a TSC2/PKD1 deletion on multiplex ligation-dependent probe amplification (MLPA).

  • TS, tuberous sclerosis.