LEG PAINS IN VCFS
Ahmad Al-Khattat, Warren Turner, Patricia Nesbitt


The process of studying the leg pains associated with VCFS is a difficult one for a number of reasons. The description of the symptoms is difficult to elicit from many of the patients because they are young children. Furthermore, many have communicative disorders, including language impairment, which may restrict their ability to describe the problem fully. It is also possible that leg pain may have always been present, even in young children, so that the child was unaware that it was out of the ordinary and thus may not have registered a complaint. These factors do not, however, diminish the importance of studying the problem which many parents describe as serious. We would like to report on our assessment of 16 children with VCFS who presented with complaints of leg pains.

Those patients who could communicate the nature of their symptoms described feeling a dull ache or burning sensation in both legs, particularly in the area of the calf. The pain occurred at any time, but mostly at night and at the end of a physically active day. Parents reported two signs which suggested that their child was having leg pain. The first sign was that the child needed a rest during short walks. The child might complain of leg pain, demand to picked up, or lag behind while starting to cry. Some children were unable to run as much as children who did not have VCFS, often needing to sit down for a rest during group physical activities.

Curiously, some children with VCFS who had leg pain were able to persevere in the physical activities they enjoyed the most while complaining with more mundane activities like walking. For example, some children were able to participate in dancing twice per week for an hour at a time without complaint. Similarly, many parents expressed surprise at the distance their child walked on the treadmill during the assessment of their gait with us. A typical comment was, "He/she would never walk as much in the street."

The second sign of leg pains was the frequent episodes of waking during the night. These episode varied from day to day and from child to child. One child woke up nine times per night. While it is understood that children with VCFS might have disturbed sleep for a number of reasons, one can not rule out chronic leg pains as being a significant factor and parents should make it a point to ask their child about this. In our experience, children who woke during the night often complained of leg pain, frequently crying and kicking their legs in a restless state.

A questionnaire designed to ascertain the presence of leg pains was sent to 15 children with VCFS chosen at random by Dr. Judith Goodship, Clinical Geneticist at the University of Newcastle Upon Tyne, United Kingdom. Eleven responses were received (73.3%). Of the eleven who responded, four (36.4%) definitely had leg pains, three (27.3%) definitely did not have leg pains, and four responses (36.4%) were inconclusive. A larger study of 150 patients with VCFS has been undertaken through the resources of the 22q11 Group in the United Kingdom and should be completed later this year.

Our clinical experience is based on 16 children with VCFS examined and treated at the Northampton School of Podiatry in the U.K. A number of foot and postural abnormalities were observed. The most common abnormality was excessive subtalar joint pronation where the foot rolls inward causing flattening of the plantar arch (commonly referred to as "flat feet"). Less common was the opposite problem, cavoid syndrome where the foot shows a high arch with a tendency to roll outward. These problems are most noticeable while the child is walking or standing.

Another common feature in VCFS is ankle joint equinas where the child is unable to draw the foot towards the leg as much as required for normal walking. This is often associated with tightness of the calf muscles. The hamstring muscles have also been fond to be tight in some patients.

The leg and foot abnormalities in VCFS require the lower limb to compensate at other joints to achieve normal locomotion which causes the leg muscles to work harder than usual which may explain the sensation of pain in many children. This hypothesis is supported by the fact that all patients showed improvement in their symptoms after receiving podiatric treatment specific to the foot abnormalities listed above.

Treatment consisted of the prescription of an insole to fit inside the shoe. The insole was designed to improve shock absorption and normalize the position of the foot during walking. Muscle stretching exercises were also recommended for patients with tight calves and/or hamstrings. All patients showed improvement with reduced pain, better exercise tolerance, and a decrease in the number of nocturnal episodes of leg pain. Very few experienced complete resolution of their symptoms.

It is possible that a child with VCFS may be experiencing leg pain without his or her parents being aware of the problem because the child does not complain. It has been found that some families only became aware of the problem after attending meetings which highlighted them, or via materials from the Educational Foundation or other local organizations. It is therefore advisable for parents to be aware of the problem of chronic leg pains, to understand the cause (thereby ruling out other "possible" causes and preventing fruitless searches), and to seek appropriate treatment when necessary.