Spinal dysraphism

When an antenatal diagnosis of a congenital spinal cord lesion is made (confirmed by the required additional examinations: fetal MRI and genetic assessment through amniotic fluid sampling) and the decision is made to continue the pregnancy in an informed manner, the parents meet the multidisciplinary team, which includes the obstetrician, neonatologist and neurosurgeon. The team explains the obstetric and neonatal management and, more specifically, the surgical procedure that will be required at birth. In the event of a multiple-malformation syndrome, a genetics consultation is arranged.

The newborn’s condition is assessed at birth and any additional investigations required (in particular, repeat brain and spinal cord MRI) are performed to provide individualised care. Neurosurgery is carried out during the first few days of life: excision of the myelo(meningo)cele, closure of the skin defect and placement of a ventriculoperitoneal shunt. A hip ultrasound is performed. The parents meet the geneticist if this did not take place antenatally or if new information needs to be provided.

After this initial neonatal care, the child returns home and receives neuromotor physiotherapy once or twice a week (sensorimotor stimulation).

Subsequent multidisciplinary follow-up continues as described below.

Follow-up of children with congenital spinal cord lesions may sometimes begin after the neonatal period, either because the child has a mild form or because the child has arrived from abroad. As with children who received neonatal care, multidisciplinary follow-up is established.

The multidisciplinary team providing follow-up for patients with congenital spinal cord lesions consists of:

• Coordinating physician and neuropediatrician: Dr Anne Monier anne [dot] monier [at] hubruxelles [dot] be (anne[dot]monier[at]hubruxelles[dot]be)
• Neurosurgeon: Dr Viviana Minichini
• Orthopaedic surgeon: Dr Ludo De Borre
• Gastroenterologist: Dr Patrick Bontems
• Physical medicine and rehabilitation physician: Dr Costanza Lombardo
• Nephrologist: Dr Khalid Ismaili
• Visceral surgeon: Dr Karim Khelif
• Geneticist: Dr Catheline Vilain
• Paediatric plastic surgeon: Dr Diane Franck
• Neurourology: Dr Julie Moyson, HUB-Erasme, CTR
• Obstetrics and Gynaecology (Fetal Medicine Clinic): Dr Anne Holoye
• Psychologist: Ms Pascale Dewinter
• Physiotherapists: Ms Farrie Bakkali and Mr Henri Schmit
• Occupational therapist: Ms Majda Lakbichi
• Speech therapist: Ms Lorraine Calimez
• Neuropsychologists: Ann Van der Heyden, Simon Baijot
• Secretary: secretariat-chirped [dot] huderf [at] hubruxelles [dot] be (secretariat-chirped[dot]huderf[at]hubruxelles[dot]be)
• Social worker: Ms Géraldine Verdonck

Multidisciplinary follow-up comprises two consultations per year, held on the same day whenever possible:

• Neuropaediatrics
• Orthopaedics
• Neurosurgery
• Paediatric gastroenterology
• Paediatric nephrology

Depending on each child’s needs, an additional opinion is sought from the

• Physical medicine and rehabilitation physician
• Visceral surgeon and urologist
• Endocrinologist
• Paramedical team: physiotherapist, occupational therapist, speech therapist, psychologist, neuropsychologist, dietitian
• Geneticist (complete clinical examination to look for dysmorphic features and other conditions)

The child’s specific needs are reassessed at each consultation and after each assessment, discussed with the parents, and documented in a detailed report by each specialist.

Additional examinations are performed, some systematically and others according to the child’s needs:

• Brain and spinal cord MRI: during the neonatal period, at 1 year, 6 years and during puberty, and according to clinical findings
• Somatosensory and motor evoked potentials (particularly if neurosurgical and/or orthopaedic surgery is planned)
• Auditory evoked potentials and sleep study (in cases of symptomatic Chiari malformation or signs of cervical spinal cord impairment on imaging)
• Hip and spinal X-rays: according to symptoms and clinical findings
• Urinary tract ultrasound: every 2 years or more frequently, according to clinical findings
• Laboratory tests, including creatinine clearance: every 2 years or more frequently, according to clinical findings
• Urodynamic assessment: during adolescence and earlier, according to symptoms and clinical findings
• Manometry at 5 years of age.
• Colonic transit test using radiopaque markers at 2, 5 and 10 years of age
• Neurodevelopmental assessment at 2–3 years, 5–6 years and, if necessary, during adolescence (intellectual, psychomotor and speech-language assessment)

During adolescence, a transition consultation is organised at Erasme Hospital, in the presence of Dr Minichini, neurosurgeon, and at the Centre for Traumatology and Rehabilitation (CTR) with Drs Lombardo (physical medicine and rehabilitation) and Moyson (neurourology).

The multidisciplinary team works in coordination with the people involved in the child’s or young person’s care: family, therapists, family doctor, school, PMS and PSE centres, support services and patient associations. Assistance is also provided with administrative procedures (registration with Phare, VAPH and Aviq; applications for increased family allowances; incontinence allowance; urinary catheters; material assistance, etc.).