Genetic diagnosis of X-linked adrenal leukodystrophy

The patient, a 10-year-old male, was admitted to the hospital

Admission examination: head circumference 54 cm, blood pressure 108/70mmHg (1mmHg = 0.

Auxiliary examination: hematuria routine, liver and kidney function, cardiomyoenzymes, ions, blood lipids, blood glucose, immunology, thyroid function, and normal

Smart Test: WISC-R, Language IQ65, Operation IQ47, Total IQ49, Subjects: Slow Response, Distraction, Good Mood, Cooperation

discuss

X-linked adrenal autotrophic dystrophy (X-ALD) is a common peroxisome lipid metabolism disease with X-linked recessive inheritance and predominantly male involvement, with more than 50% of female carriers over 40 years of age developing symptoms

(1) Children's cerebral ALD, accounting for 35%;

(2) Adrenal spinal cord neuropathy type ALD, accounting for 25% to 46%;

(3) Adolescent cerebral ALD, accounting for 4% to 7%;

(4) Adult brain-type ALD, accounting for 2% to 5%;

(5) Addison disease alone, accounting for 10%;

(6) Asymptomatic type, accounting for 4% to 10%.

X-ALD has characteristic biochemical and radiographic changes

Gene mutation analysis is of great significance for the diagnosis of patients with X-ALD

The child due to unstable walking, clumsy movements, headache to seek treatment, parents complained that the child's learning ranking is medium, but after admission found to be mentally backward, nervous system examination has a cone bundle sign, cranial MRI changes typical, the child has no skin blackness, salt loss, but serum cortisol is low, plasma adrenocorticotropic hormone is high, clinical consideration is pediatric brain ALD, no VLCFAs examination, ABCDI gene sequencing, found mutation site, which is located in exon 1b, belongs to the code transfer mutation, in the X-Aid gene pool (WWW.