Article Type : Case Report
Authors : Begum R
Keywords : Sturge-Weber syndrome; Physiotherapy; Milestone
Sturge-Weber
Syndrome is a rare, progressive and congenital syndrome. This syndrome is
characterized by a facial birthmark and neurological abnormalities with port
wine stain, developmental delays, glaucoma, seizures and paralysis. The aim of
this case is to present the developmental delay of Sturge-Weber syndrome (SWS)
with physiotherapy management. A 9 month old girl was diagnosed as SWS. The boy
was examined by MRI scan. This patient was admitted at Paediatric Department
for 14 days. Physiotherapist focused child’s developmental milestone and
prevention of complication. Early identification and physiotherapy treatment
plan is important to prevent development of further complications
Sturge-Weber Syndrome is rare congenital disorder with
vascular malformations in the skin, eye and the brain. Thus these malformations
result from failure of normal regression of fetal vascular plexus surrounding
the cephalic portion of the neural tube [1]. The ectoderm over this area later
forms the facial skin. The prevalence is actually estimated at 1 per 50,000
live births [2]. Sturge Weber Syndrome (SWS) was first described by Schirmer in
1860 and later more comprehensively by Sturge in 1879 who associated
dermatological and ophthalmological changes of the disease to the neurological
manifestations. Weber complemented it with the documentation of radiologic
findings seen in these patients [3]. The aim of the study is to show the
developmental delay of child with SWS with physiotherapy management to improve
developmental milestone age appropriately.
Subjective information
A
female infant came to inpatient, Paediatric department at CRP, Savar on 15th
July, 2020. She was 9 months old and her ID no. was 20/15827. She was from
Faridpur district of Bangladesh. The referring diagnosis was "Sturge weber
syndrome”. Her parents are well educated, both of them completed
post-graduation. Her mother is a housewife and father is a teacher. She has no
siblings. Her mother came with the complaint that she couldn’t hold her neck
and sit independently. Her parents' expectation was to recover her condition as
much as possible. After explaining about the condition, she had given a written
consent to complete the child's entire assessment and therapeutic intervention
here at inpatient pediatric department, CRP, Savar, Dhaka.
From
the birth history author found that she was a term child, the delivery of the
child was attended by a doctor at hospital. After birth she had pneumonia, and
a seizure was seen after eight hours of birth. They stayed for four days at the
hospital and received conservative treatment (oxygen and medication). The
investigation report of EEG and CT-scan were available. The report of EEG was
abnormal due to the presence of frequent slow waves in the right temporal
region which is consistent with focal cerebral dysfunction. And the impression
of the CT-scan showed that she had Sturge Weber Syndrome. She had taken
homeopathy treatment before and had been continuing medication for epilepsy.
Her last seizure was seen at 7.5 month of her age. She had no hearing problem
but had a fixing vision and communicated with her mother by crying. For
ensuring the accessibility, I had to know about the child’s home environment
and the paved road was pitched and type of area was urban.
Objective information
By
general observation I found that the child was lying on her mother’s lap. I
observed that the respiratory status of the child was normal (respiratory
rate). A mild increased tone was present on both of her upper and lower limbs.
The ROM of both of her upper and lower limb was in within normal limit. The ROM
of spine was also within normal limit. She had symmetrical but poor weight
bearing in sitting position. And she had poor protective and equilibrium
reaction in sitting position. Poor balance & co-ordination were also
present.
In
gross motor function, I found that the main mode of mobility for the child was
lying (dependent on her mother) and the preferred position of floor for the
child was supine lying. The child needed total support on bridging, cross leg
sitting, long sitting, box sitting, four-point kneeling, squatting, high
kneeling and standing. In case of transitional movement, she could perform roll
over from prone lying to supine lying position. This Maximum support was needed
for lying to sit. Her fine motor function and coordination of upper limb was
poor.
After
completing subjective and objective assessment physiotherapist diagnosed this
patient as Sturge Weber Syndrome.
Treatment plan and goal
set-up
After
completing subjective and objective assessment, some problems were found out to
be treated. Developmental day was focused point to discuss. The physiotherapy
problems included: increased muscle tone, poor posture, poor gross motor
function, poor transitional movement (lying to sitting, sitting to standing),
poor coordination, poor grasping and releasing object. According to problem
physiotherapist fixed physiotherapy treatment plan with short term and long
term goal. The treatment plan was following:
·facilitate active range of motion exercise to
improve active movement
· passive range of motion exercise to prevent
contracture and deformity
· sustained stretching to reduce muscle tone in
upper and lower limb
·functional stretching to improve movement,
flexibility through neuroplasticity
· pelvic control practice by bridging exercise
· practice gross motor function to improve or
achieve milestones
· facilitate transitional movement to improve
mobility
· postural correction
· mother’s counseling about child’s condition,
prognosis, future complications and importance of physiotherapy
Therefore,
I had arranged some short term and long term goals according to the child’s
problem list, and set duration to achieve those goals. Those short term goals
were to provide mother’s education, reduce tonicity, improve neck control and
improve transitional movement (supine to prone) within 14 days. And long term
goals were to improve neck control in sitting, improve posture, improve
mobility through within 4 months and advised child’s mother to come over at CRP
for follow-up of her child from time to time.
To
achieve these goals, I had to come up with some treatment plans. I planned to
provide slow passive stretching, active facilitating exercise and weight
bearing to reduce tonicity. I had also planned to provide neck control practice
in sitting and prone lying to improve neck control, bridging exercise to
improve pelvic control, rolling practice to improve transitional movement,
gross motor function practice (according to severity) to improve gross motor
function, postural correction to improve posture, sitting balance practice to
improve sitting balance, and mother’s education about patient’s condition,
treatment, prognosis.
I
also maintained SOAP note regularly and had given home advice to the mother of
the child to prevent secondary complications. The child was discharged after only
one week, on 23.07.200 that is before the expected time due to several attack
of convulsions. She was discharged and referred to Dhaka Medical College (DMC)
for management of convulsion. By the time of discharge, the mother was
completely educated about her child's condition, treatment, handling, prognosis
and the importance of physiotherapy for her child. But her condition was not so
much improved. Child's mother was advised to perform all group therapies,
hydrotherapy, physiotherapy accurately and regularly by maintaining dose and
instructed not to perform therapy if the child had fever or got sick, rather
consult with a doctor for betterment of the child's conditions. Wooden chair
was planned to prescribe for improving static sitting balance and to maintain
body alignment for postural correction.
A
study with Sturge Weber Syndrome exhibited the prevalence of clinical
manifestation and relationship among variables. The age of onset of seizures
was (0-23 years) and the relationship between the seizures and developmental
delay was established. In those with and without seizures, the prevalence of
developmental delay was (43% vs. 0%), emotional and behavior problems (85% vs.
58%), special education requirements (71% vs. 0%), and employability (46% vs.
78%) were analyzed [4]. The resent study showed similar feature of
developmental delay with feature. Due to methodological design author was not
able to analyze the relationship between seizure and developmental delay.
Another case with SWS developed seizure at age of 2 year and seizure respond
well to the antiepileptic treatment. This patient did not have development
delays and higher functions were normal [5].
Sturge-Weber syndrome illustrates a various
types of clinical presentations where seizure and developmental delay are
common features. Physiotherapy management is necessary to avoid future
complications and to improve developmental milestones of patients.
2.Di Rocco C, Tamburrini G.
Sturge–Weber syndrome. Child's nervous system. 2006; 22: 909.
3.Neto FXP, Junior MAV, Ximanes LS, de
Souza Jacob CC, Junior AGR, Paletha ACP. Clinical features of Sturge Weber
Syndrome. Intl Arch Otorhinolaryngol. 2008; 12: 565-570.
4.Sujansky E, Conradi S. Outcome of
Sturge-Weber syndrome in 52 adults. Am J Med Genet; 1995; 57: 35-45.