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One of modern medicines biggest challenges lies in the diagnosis and treatment of rare childhood diseases. Most of these conditions have much better outcomes if diagnosed and treated early. Three of the more unusual examples of rare childhood diseases include Menkes disease, Moebius syndrome, Congenital Insensitivity to Pain (CIP), and Leukodystrophies.
Menkes disease is a genetic defect affecting copper metabolism that is usually fatal in the first decade of life. This rare childhood disease occurs primarily in males and results in the body storing copper abnormally in certain tissues. In these individuals, copper is stored in low levels in the liver and the brain. Abnormally high levels of copper are found in their intestinal lining and kidneys. Typically, the child develops normally for six to eight weeks before exhibiting poor muscle tone, failure to thrive, seizures, brain damage, low body temperature, and unusual hair growth.
An underdevelopment of the 6th and 7th cranial nerves can result in Moebius syndrome. It is evident from birth as a lack of facial expression resulting from facial paralysis. Children with Moebius syndrome cannot suck, or move their eyes laterally; they cannot frown, smile, or blink. Like many rare childhood diseases, Moebius syndrome varies in the severity of symptoms. Some common complications include cleft palate, hearing impairment, reduced tongue movement, upper body weakness, excessive drooling, difficulty swallowing, crossed eyes, and hand or foot deformities.
Congenital Insensitivity to Pain is unusual even amongst the ranks of rare childhood diseases. The child has a normal sense of touch except in association with pain. Without a sense of pain, the child must be carefully monitored to avoid serious injuries. Adults with the disorder have a higher incidence of mortality from traumatic or risky behavior, but otherwise, the disease does not impact lifespan. The cause of the condition is a mutation in the gene that is responsible for the production of sodium channels on neurons associated with pain reception.
Leukodystrophies are a class of rare childhood diseases wherein the central nervous system is disrupted by abnormal myelin production and deposition. Myelin insulates nerves the way rubber insulates an electrical wire, by improving conductivity and protecting the nerve fiber from damaging compounds. There are over 40 forms of leukodystrophy, but the common symptoms are a progressive loss of muscle tone, gait, speech, reaction time, vision, speech, behavior, and general development. Less common symptoms include hormonal imbalance, progressively declining heartbeat, premature atherosclerosis from lipid accumulation in the arteries, and seizures. Most leukodystrophies are not diagnosed at birth due to the disorders slow onset.
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