Medical Features

Living with Lowe Syndrome

III. Medical Features, cont'd.

F. Special Health Concerns

Lowe syndrome often gives rise to other, more generalized health concerns in addition to those previously discussed.

1. Conditions causing metabolic imbalance. Any circumstance which interferes with the ability of children with Lowe syndrome to take in their usual amount of daily fluids and medicines may increase their risk for developing metabolic imbalance. This is more likely to occur with illnesses such as colds, flu, vomiting, or diarrhea. It may also occur when uncontrolled seizures interfere with normal fluid intake. At these times parents should seek prompt medical attention because intravenous fluids and medications may be needed.

Also, some children may need intravenous fluid and medication therapy to prevent metabolic imbalance when having surgery, anesthesia, or other procedures which require a period without eating or drinking.

2. Respiratory illness. Children with Lowe syndrome may be more susceptible to developing pneumonia because of hypotonia (see "Hypotonia" in Brain and Central Nervous System) which may cause an inability to cough strongly and effectively. They should be monitored carefully during episodes of respiratory illness. Parents may learn to administer postural drainage therapy, which may help to loosen mucous plugs in the lungs.

3. Eating difficulties. Hypotonia can affect the ability to suck and swallow, causing several potential problems including inadequate nutritional and fluid intake and inability to take medications. Also, poorly coordinated swallowing abilities can increase the risk for aspiration pneumonia (which can result when food or liquid goes down the trachea and into the lungs instead of down the esophagus and into the stomach). Specialists in occupational therapy or speech and language may be able to provide "feeding training" to help improve the ability to suck and swallow. If a child is not able to take in his daily nutritional requirements, alternate methods of feeding may need to be considered. One method is the use of a nasogastric (NG) feeding tube which is placed through the mouth or nose into the stomach. The NG tube is not permanent. Another method is the gastrostomy tube (G-tube or button) which is surgically placed directly into the stomach through the abdominal wall.

Another common problem in Lowe syndrome is gastroesophageal reflux (GER), a condition often associated with hypotonia. In GER, the sphincter muscle at the top of the stomach does not stay shut, allowing food or liquids to come back up the esophagus. This often causes heartburn, vomiting, and esophageal irritation from stomach acid. It also causes an increased risk for aspiration pneumonia. To diagnose this condition physicians may order an upper GI series and a scintiscan (X-rays with isotope) for reflux. Treatments may include adaptations such as eating upright and elevating the head of the bed, medications, and/or surgery.

4. Constipation. About one-half of individuals with Lowe syndrome have constipation. Poor muscle tone may contribute significantly to this problem. Some doctors believe, however, that constipation is a specific feature in Lowe syndrome and represents a direct effect of the gene upon the intestinal muscles, causing an inability to move the stool effectively.

Treatment includes adequate amounts of fiber in the diet and plenty of water. If dietary control is ineffective, medication may need to be considered. This should be done only under a physician's care. Enemas are not recommended because they can lead to serious metabolic imbalances that could be life threatening.

5. Cysts. Cysts, a common problem in Lowe syndrome, can occur in many places, including the mouth, kidneys, brain, and skin. Dental cysts appear to be quite common with teething but usually resolve after permanent teeth are in. In older boys with Lowe syndrome, cysts in kidney and skin appear to be more frequent. Cysts in the brain have also been reported.

In adults with Lowe syndrome, skin cysts around the lower back and buttocks can become quite painful and occasionally become infected. The cause of the cysts is not known, but it probably is a specific effect of Lowe syndrome. Treatment with retinoic acid derivatives may be considered, but the potential negative effect on the kidneys is unknown.

6. Undescended testes Undescended testes, or cryptorchidism, occur at birth in about one-third of the boys. The testes will descend naturally with time in about one-third of those affected. The remainder should be evaluated prior to 2 years of age to determine if surgical correction or other medical therapy is needed.