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Table 2 Patients with neonatal NP-C

From: Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database

Patient number/Gender

Sibship

Date of birth

Age at diagnosis

Age at last FU/deatha

Neonatal LD

HS/S

Seizures/cataplexy

VSGP

Dev. delay

Ataxia

Swallowing problems

Psychiatric disturbance

Slurred speech

Miglustat?

Age at 1st miglustat start

Miglustat duration

Genetic mutations

1/M

–

2000

4 m

4 ma

PJ LD

HS

–

–

From birth

–

–

–

–

No

–

–

–

2/F

a

2001

PM

0a

FA

–

–

–

–

–

–

–

–

No

–

–

–

3/F

a

2002

PM

0a

FA

–

–

–

–

–

–

–

–

No

–

–

–

4/M

b

1985

Birth

1 ma

Yes

Yes

–

–

–

–

–

–

–

No

–

–

c.3501C > G(p.Phe1167Leu)/c.3501C > G(p.Phe1167Leu)

5/M

b

1985

Birth

2 ma

Yes

Yes

–

–

–

–

–

–

–

No

–

–

c.3501C > G(p.Phe1167Leu)/c.3501C > G(p.Phe1167Leu)

6/F

c

2009

2 m

7 ma

Yes

Yes

–

–

–

–

–

–

–

No

–

–

c.3020C > T(p.Pro1007Leu)/c.3020C > T(p.Pro1007Leu)

  1. aPatient died; ‘–’, no data/not known; C cataplexy, E epilepsy, FA foetal ascites, HS/S hepatosplenomegaly/splenomegaly, LD liver disease, m months, PJ prolonged jaundice, PM post mortem, y years, w weeks