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Table 2 Clinical findings in NLSD-I patients

From: Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients

Patients   LG VG CM39 SF AA LB
References   [Bruno, 2008] [13] [Bruno 2008] [13] [Gaeta, 2008] [14] [Redaelli,2010-Ronchetti, 2008] [6, 18] [Redaelli, 2010] [6] [Angelini, 1980] [16]
Family   XII.1 XII.2 XIII.1 XIV.1 XV.1 XVI.1
Mutation   p.R184X/p.R184X. loss of α/β hydrolase domain p.R184X/p.R184X. loss of α/β hydrolase domain IVS4-1G > A Probably not functional protein c.47 + 1G > A Probably no protein production   p. S33X/p.R297X. Probably no protein production/ It loses the end of α/β hydrolase domain and C-terminal domain
Sex   M F F F M F
Onset of symptoms   Birth Birth Birth Birth Birth 5y
First symptom   C C C C C H
Age at last clinical examination   15y 28y 69y 42y 16y 5y
Weakness proximal - - LL - - UL, LL
  distal - - UL, LL - - UL, LL
  axial - - - - - +
Other clinical features   - - HL CT - -
Exercise intolerance   - - + - - -
Myalgias   - - - - - -
Muscle cramps   - - + - - -
Spine deformities   - - L - - L
Cardiac involvement   - - HCM - - -
PMK/ICD implantation   - - - - - -
Liver involvement   + + - + + +
Ichthyosis   + + + + + +
Jordans’ anomaly   n.p. n.p. + + + +
Age at muscle biopsy   6 y n.p. 65y n.p. n.p. 5y
Lipidosis in muscle biopsy   + n.p. + n.p. n.p. +
EMG   n.p. n.p. N, SA n.p. n.p. M
Max CK value   3.5X 1.5X 2X Normal Normal 1.5X
  1. C Cutaneous, H Hepatic, LL Lower Limbs, UL Upper Limbs, +: yes, -: not, HL hearing loss, CT cataract, L Lordosis, HCM hypertrophic cardiomyopathy, M myopathic features, SA spontaneous activity, N neuropathic features, n.p not performed