2.2 Patient B
An 11-year-old male who exhibited a history of gait difficulties,
frequent falls and clumsiness was requited to this study. The proband
(Shown in Figure 2) was the first child born to healthy consanguineous
parents from Lorestan province, Iran. The proband was born naturally and
delivery was uneventful. However, the mother had a miscarriage history,
and she was pregnant for a male fetus at the time of the study. The
process of the childhood development was remarkable, since the proband
was able to hold his neck, sit, communicate and walk at the estimated
time. By the age of 4 years, the first sign of the disorder appeared as
he represented with lower limb spasticity and gait difficulties. The
proband’s toes became spastic which led to fixed plantar flexion of the
foot, indicating pes caus. Subsequently, he acquired motor difficulties
including hyperreflexia, tremor and ataxia. Strabismus and poor vision
were also observed in eye examination. The rapid progression of the
disorder resulted in loss of previously acquired developmental
milestones, leading to mild-sever cognitive decline, intellectual
disability and progressive loss of ambulation. The family also
complained about the proband’s urinary urgency. Electromyography (EMG)
and nerve conduction velocity (NCV) evaluations of skeletal muscles at
the age of five, presented no evidence of myopathy or peripheral
neuropathy. The magnetic resonance imaging (MRI) of brain and spinal
cord disclosed very mild abnormal signal intensity in centrum semiovale,
suggesting leukoencephalopathy or periventricular leukomalacia (PVL)
(shown in Figure 2). With this regard, clinical findings proposed mild
spastic paraplegia.