[source]
pmid = PMID:28327087
title = NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup
[diagnosis]
disease_id = OMIM:613162
disease_label = Spastic paraplegia 45, autosomal recessive
[text]
Patient II.1 is the oldest brother (9 years old). Although he is similarly affected, he was originally misdiagnosed for
cerebral palsy because of prematurity and early lower limb spasticity. Postnatally, he was admitted to the NICU because
of respiratory distress; however, no mechanical ventilation was required. By the age of 4 months, his lower limbs
were markedly spastic with scissoring. As a 2-year-old, his speech and motor developmental delay were notable.
He could not sit unsupported for long periods, but could take a few steps while holding onto objects with evident
lower limbs spasticity and marked truncal hypotonia. He started to speak when he was 3 years old. On examination,
he was alert and cooperative despite delay in active speech. His gait, performed with difficulty for few steps,
demonstrated tiptoe walking with limited knee and hip extension and trunk flexion.
At 2 and 3 years old, he was admitted to an inpatient pediatric rehabilitation and training program for 4 months each,
which aimed to support motor and speech development. The response was good, as gross motor functions, including sitting,
crawling and kneeling, standing, and walking for a short distance without support or orthopedic aid, became possible.
He showed a more secure and significantly improved gait, and was able to pick up objects from the ground and walk up to
600 meters without supportive aids. His Gross Motor Function Measure (GMFM) chart, at the age of 3 years showed continued
improvements with the percentage of sitting 100%, standing 74% and walking 56%. However, as a 7-year-old, he underwent
tenotomies for his spastic hips and ankles.
Follow up at 9 years showed him to have an unsupported gait with primary forefoot contact, knee in flexion and lumber lordosis.
Features of truncal hypotonia, markedly limited ankle dorsiflexion and ankle clonus were notable.
His speech showed mild dysarthria. He has learning difficulties and is attending a mainstream school with extra support.
Multiple and variable-sized areas of brownish skin discoloration were present at different places on his body (Fig. 1.1).
Brain Magnetic Resonance Imaging (MRI) showed dysgenic/TCC and white matter cystic changes (Fig. 1.2).