SUMMARY Introduction: Th e present paper aims to emphasize the importance of early diagnosis of hereditary diseases rarely occurring in children, as well as the establishment of a precise diagnosis that will allow the selection of a correct treatment and the improvement of the child’s condition. Key words: hereditary disease, treatment, child.
INTRODUCTION In children, hereditary metabolic diseases, although rarely encountered, are the most complex problems faced by neurologists, endocrinologists and pediatricians .
The onset of these diseases is at different ages, and in most cases, sophisticated tests are required to establish precise and early diagnoses [1,2].
Leucodistrophy are a group of genetic disorders that lead to progressive destruction of the brain, adrenal insufficiency and eventual death, and the clinical picture is dependent on the age of onset [2,3].
THE GOAL The purpose of this paper is to evaluate the prognosis, evolution and complications of a child with progressive neurological degeneration.
MATERIAL AND METHOD C.C, aged 7 years and 10 months, male, urban, affirmative born 40 weeks of natural birth, having a birth weight of 3300g. Historically, we remember that the first symptoms occurred in September 2012 at the age of seven when the boy began to climb slower and did not ride a bicycle and in February 2013 began to talk unclearly.
Progressive since March 2013 began to have hearing problems reaching bilateral hearing loss, ophthalmologic and orientation issues. At the neurological examination run all commands with delay. ACTH 122.6 pg / ml (normal values 7.2 – 63.3 pg / ml) VLCFA (very long chain fatty acid) – these values are well above normal.
Cerebral MRI was performed on 19.07.2013 where a deep T2 signaling of bilateral parieto-temporooccipital white substance with a T2 peripheral band less hyperintensive limited to diffusion and a strong contrast substance capture is shown. Increase in signal T2 well visible along downward pyramidal stripes with very little contrast substance.
Spectroscopy in accordance with MRI images shows acute parieto occipital demyelination with profound lesions of neuroaxonal units. And front, more left than right, are lesions of vital neuroaxial tissue. Here’s the beginning of the demyelination process.
Corroborating clinical, biological and imaging data, there was suspicion of the presence of a neurological disease with progressive degradation.
The suspicion of a x-linked adrenoleukodistroph was confirmed by the genetic analysis of the ABCD1 gene, the presence of a deletion in the ABCD1 gene comprising exon 2. This deletion was also confirmed in the mother which is a heterozygous carrier.
RESULTS Adrenoleucodistrophy has no known treatment yet. Diets containing glyceryl trioleate and triglyceride glycerol are often used along with low-fat foods in small chain fatty acids . Treatment of neurological complications and endocrinological complications if they have adrenocortical dysfunction [4,5].
DISCUSSIONS. CONCLUSIONS A haematopoietic stem cell transplantation is the only method of stopping disease progression to an asymptomatic phase. Transplantation presents a mortality risk and is not recommended in patients with severe symptoms [3,4].
In our case, stem cell transplantation could not be achieved because neurological degeneration is severe and the risk of mortality is very high. Genetic counseling is recommended for prospective parents with a family history of adrenoleukodistrophy. Female carriers can be diagnosed in 85% of cases by determining the VLCFA level or by performing DNA studies. Affected men transmit the genetic mutation to all of their daughters but to none of their sons [1,2].
Preinseminational genetic diagnosis can be used in families where the genetic mutation has been identified in an affected family member or in those who decide to inseminate only female embryos to avoid the possibility of an affected boy being born [1,3,5].
ABBREVIATIONS VLCFA – Long-chain fatty acids
- Georg F. Hoff mann, Johannes Zschocke, William L. Nyhan, 2010; Inherited Metabolic Diseases. p. 15-25, 53-54, 143-146.
- Icon Health Publications (Author) – Adrenoleukodystrophy – A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References Paperback – August 23, 2004 ISBN-13: 978-0497000318
- Zgorzalewicz-Stachowiak M, Stradomska TJ, Bartkowiak Z, et al. Cerebral childhood and adolescent X-linked adrenoleukodystrophy. Clinical presentation, neurophysiological, neuroimaging and biochemical investigations. Folia Neuropathol. 2006;44(4):319-26.
- Moser HW, Raymond GV, Lu SE, et al. Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo’s oil. Arch Neurol. 2005 Jul;62(7):1073-80.
- Asheuer M, Bieche I, Laurendeau I, et al. Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy. Hum Mol Genet. 2005 May 15;14(10):1293-303.