IP is mostly seen in infant girls in the postnatal period as a result of an X chromosome mutation that might be accompanied by anomalies in other organs and systems, and has a frequency of occurrence of 1/40 000.9 16
Our case was a 4-month-old girl.
Anomalies in other systems are observed frequently in IP disease. Ocular anomalies are observed in 35% of the cases and include widespread retinal pigmentation, microphthalmia, lenticular haemorrhage, retrolental fibroplasia, cataract and optic atrophy,17 31
and our case showed ocular signs consistent with the literature as well. An eye examination when the child was 10 months old showed a normal optic nerve but there was difficulty moving the left eye upward and downward. Our observational evaluations showed that the patient had no ability to follow objects.
CNS dysfunction is observed in 30% of patients with IP.16
Neurological symptoms are reported in the first week following birth and visualisation of brain damage by MRI is performed at the third day at the earliest.32 33
Microcephaly, stroke, MR, spasticity and ataxia may be present. MRI anomalies include heterotopias, hemimegalencephaly, focal cortical dysplasia, callosal digenesis, cortical atrophy and cortical malformations such as periventricular lesions.12
Spinabifida, anencephalia and encephalopathy are widespread neural tube defects in IP.17
Our case had corpus callosum agenesis, CNS abnormalities, Dandy–Walker syndrome, an arachnoid cyst the in posterior fossa, a porencephalic cyst in the left parietal lobe as a posterior and compatible lesion, diffuse contrast abnormalities and an encephalocele.
Surgery for the encephalocele and duraplasty was performed on our case when she was 9 months old. It is generally reported that the visual and neurological prognoses are good in children with IP if ocular and CNS anomalies are not observed in the first year.31
However, there were anomalies in both systems in our case.
General studies in the literature related to IP cases mostly focus on the medical condition or the systemic abnormalities, and studies on early physiotherapy results were not available until recently. The most commonly observed neurological disability in IP cases is MR, which was present in our case.33 34
MR is classified as mild in children whose IQ is 50–70 and severe when the IQ is below 50. Beckung et al35
investigated motor and emotional dysfunction based on the child's level of MR and epilepsy. The motor and emotional developmental level of none of the children involved in the study was compatible with their age. None of the 57 children with severe MR had normal gross motor function, fine motor function, coordination, balance or perception. However, 7 children out of the 31 with mild MR had normal gross motor function but 2 had epilepsy that was difficult to control. Normal participation was observed in six children, one of whom had uncontrollable epilepsy and five had controlled epilepsy. The GMFM gross motor function score was 65% in children with CP with mild MR and 22% in those with severe MR,35
showing that MR severity affected the child's motor function and performance. Forssberg states that limited system function and sensorimotor afferents give the child very little stimulus and this results in weak body image and activity paucity. Children with MR show lack of motivation that mostly affects undeveloped motor behaviour.36
We believe that the MR in our case was a negative factor affecting the physiotherapy process and activity.
Beckung et al35
state that individual and group physiotherapy can help a child if gross and fine motor function, coordination, balance and participation is present. While children with CP and MR need physiotherapy on a regular basis, children who only have MR and epilepsy still need to be evaluated by a physiotherapist and supportive advice provided to the families to support their child's normal development even if treatment is not required on a regular basis.35
The first evaluations performed in our case showed the baby's need for a regular physiotherapy programme and the necessity of supporting it with a home programme and family education.
The BSID-II is the current ‘gold standard’ for assessing a child's general development from 1 month to 42 months of age.37 38
Bayley-III is used for the evaluation of the child's development and the effectiveness of therapeutic approaches in many paediatric disabilities26
and we therefore chose to use Bayley-III for our case with IP. We did not have a chance to compare our case with another child with the same diagnosis, as no other studies on physiotherapy in children with IP are present in the literature. Cognitive and motor development improved in our case during the rehabilitation process, but we believe that the motor and cognitive retardation became more apparent with growth.
It is emphasised in the literature that early physiotherapy approaches are practiced for children with a risk of neuromotor dysfunction to minimise the level of possible future disability.39
Yigit et al39
have studied the benefits of the early physiotherapy approach on premature babies. Their survey research population included 229 babies who were born before the 34th week and weighed less than 2000 g. They could not demonstrate the effect of early physiotherapy on motor functions of premature children with low birth weight but did show the importance of a routine CP development risk monitoring programme.39
A successful treatment has been reported in 93% of the 27 studies on an early rehabilitation programme but the majority of these studies are based on subjective data and observations. The authors have found statistical evidence that supports a benefit in 48% of the studies.40
The Ottenbacher et al41
study showed that the motor development levels of children receiving NDT were more advanced than children being treated otherwise. We did not have the chance to compare our case with others, as this is the first article on the physiotherapy and rehabilitation practices of children with IP. However, we performed comparisons with our patient's evaluation results over time and also with other high-risk infants with different diagnoses reported in the literature.
- We observed that the physiotherapy programme has to be started immediately after birth to support the developmental process in our case with incontinentia pigmenti (IP) that we followed-up during the early rehabilitation process.
- This first presentation of an IP case that underwent physiotherapy during the early rehabilitation process has demonstrated the importance of early physiotherapy.
- The next step should be long-term studies on a larger number of cases with a multidisciplinary team.