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Table 1 Clinical features of the studied patients with Dorfman-Chanarin syndrome

From: Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene

Patients 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15
Family 1 2 3 4 4 4 4 5 10 11 12 6 7 8 9
Gender F F M M M M M M M M F F F M F
Age (years) 30 42 30 37 58 48 40 26 14 52 30 9 23 7 Mo 7 Mo
Jordans’ anomaly + ND ND + ND ND ND + + + + + ND + ND
TSH/ FT4 (0.25-5μUI/mL/12.20 pmol/L (N/N)a 9.42/10.06 0.9/14.72 > 60/1.55 11.5/8.11 16.17/1084 11.87/8.79 2.25/17.32 3.02/18.21 ND/ND 4.5/11.5 2.82/18.65 3.30/18.53 ND/ND ND/ND
Thyroid antibodies ND + ND ND ND ND ND ND ND ND
AST/ALT ▲/▲ ▲/▲ ▲/▲ ▲/▲ ▲/▲ ▲/▲ ▲/▲ ▲/▲ ▲/▲ ▲/▲ ▲/▲ ▲/▲ ▲/▲ ND/ND ND/ND
CPK ND ND ND ND ND ND ND ND ND ND ND
Ocular findings N Nystagmus Hypermetropia Cataract Amblyopia ND N ND ND N N Cataract Cataract N N ND ND
Hearing impairment/audiogram N/SHI N/SHI N/SHI N/ND +/SHI N/ND N/ND N/SHI N/SHI +/SHI N/ND N/SHI N/ND ND ND
Cervical ultrasound Hypo echogenic Enlarged thyroid Enlarged thyroid ND Hypo echogenic Hypo echogenic Hypo echogenic Enlarged thyroid Hyper echogenic ND Hyper echogenic ND ND ND ND
Abdominal ultrasound HMG/ steatosis HMG/ steatosis Poorly differenciated kidney HMG/ steatosis Poorly differenciated kidney ND ND ND HMG/ steatosis Poorly differenciated kidney HMG/ steatosis HMG/ steatosis HMG/ steatosis HMG/ steatosis SMG enlarged kidney HMG/ steatosis ND ND ND
  1. F Female, M Male, Mo Months, N Normal, ND Not Done; ▲: increased; : decreased; +: present; −: absent, TSH Thyroid Stimulating Hormone, FT4 Free Thyroxine, AST Aspartate Transaminase, ALT Alanine Transaminase, CPK Creatine Phosphokinase, SHI Sensorineural Hearing Impairment, SMG Splenomegaly, HMG Hepatomegaly
  2. a: patient with hypothyroidism under L-thyroxine substitution therapy