Levy-Yeboa syndrome is an inherited (congenital), multi-system disorder involving signs of musculoskeletal involvement such as low muscle tone and stiffening of the joints of the arms and legs (contractions), loss of hearing (neuronal deafness), intense burn-like eruptions of the skin containing clear fluid (bullous eruptions) and dangerous gastrointestinal distress involving substantial loss of fluids (secretory diarrhoea), among other issues.
The disorder might be the result of a defect in the cell’s factories for the synthesis and breakdown of energy-producing molecules, the mitochondria. The cause may be related to defects in the gene that controls the passages in the cell wall membrane through which potassium ions flow, the gene known as KCNQ. Defects in this gene could help to explain the gastrointestinal symptoms as well as the neurosensory deafness since such symptoms in other syndromes have been definitely linked to alterations in this gene. In addition, it is well known that mutations in the KCNQ1 and KCNE genes generate substantially different symptoms and signs in different people (pleiotropic effects).
SIGNS AND SYMPTOMS
The decrease in fetal movement is the earliest expression of the failure of muscle strength and tone (myopathy). Further signs of the myopathy include contractures of the arms and legs joints. The elbows, wrists, hips, and ankles are mainly involved. In addition, the impassive, mask-like, expressionless face is considered to be another sign of the myopathy.
Neurosensory deafness is confirmed in early infancy.
In Levy-Yeboa Syndrome there are three primary symptoms involving the skin. These are:
1. Eruptions of fluid-filled blisters that resemble a skin disease known as epidermolysis bullosa simplex (EBS).
2. Generalized red (erythematous) rash.
3. Replacement of the red rash by intensely dark-coloured skin (hyperpigmentation) arising next to linear areas of low pigmentation (hypopigmentation).
The loss of fluids with a high sodium content that occurs as a result of secretory diarrhoea may result in losses of more than one quart of fluid per day, even in the absence of any oral fluid intake. This is potentially lethal and probably the most dangerous clinical manifestation of LYS. This watery stool is easily overlooked since it may readily be mistaken for urine, delaying treatment with appropriate fluid replacement. Such diarrhoea may present at any time from the first month to the sixth month of age and tends to recur during intercurrent infections. The profuse diarrhoea is believed to be responsible for the loss of important micronutrients, such as zinc, which in turn might play a role in the skin disorder.
The diagnosis is based on the clinical picture presented in the child’s first few weeks or months. A late decrease in fetal movement may be sufficient to raise suspicions or concerns regarding Levy-Yeboa syndrome. The combination of major symptoms, myopathy, deafness, skin eruptions and recurrent, massive, watery stools is definitive.
- The burn-like skin symptoms require considerable attention at the site and systemically. Creams and other topical treatments used for the management of burns may ease the discomfort and minimize the chances of infection.
- The secretory (watery) diarrhoea should be treated intermittently with intravenous nutrition for the first year of life. The bouts of diarrhoea may ease after variable periods of time. Treatment with zinc supplements (oral 20mg/day zinc chloride for maintenance; intravenous 400-600 mcg/kg/day zinc as zinc sulphate during periods of worsening of diarrhoea) appeared to be effective.
- Episodes of a high fever that require intravenous (IV) management and close monitoring are the main reasons for in-patient hospitalization at this time. After age 4 years, several episodes of diarrhoea were ended and managed with administration of Pedialyte, (a rehydration fluid) via a gastric tube or, if tolerated, by mouth. The intensity and frequency of the secretory diarrhoea episodes tend to get better over
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