Head Titubation in Infancy
A 6-month-old girl, Marina, was referred for evaluation due to persistent head titubation, characterized by rhythmic, involuntary, "no-no" or "yes-yes" head movements. Despite this, her development was otherwise age-appropriate, and there were no signs of systemic illness, seizures, or abnormal tone. This normal development provided reassurance about her overall health. Neurological examination was unremarkable, apart from the head tremor.
Her parents reported that she had good head control and was able to sit with support. However, they had noticed that she rarely made eye contact and did not consistently track faces or objects. She responded to sounds and familiar voices but had not yet begun to babble or produce consonant sounds. Feeding was unremarkable; she was breastfeeding well and had started taking small amounts of pureed solids without difficulty.
Despite her limited visual engagement, she smiled in response to voices and enjoyed being held or rocked. There were no concerns about muscle tone or motor milestones, and she was reaching for objects placed nearby, although her hand-eye coordination appeared slightly delayed. The lack of consistent visual attention and delayed babbling prompted further investigation, including ophthalmologic and developmental assessments.
A thorough diagnostic workup was initiated, including brain MRI, metabolic screening, and a comprehensive ophthalmological evaluation. The neuroimaging revealed no structural brain abnormalities, including normal cerebellar anatomy, which helped rule out posterior fossa lesions as a cause of the head titubation. Metabolic investigations, including serum lactate, ammonia, amino acids, and urine organic acids, were all within normal limits, making an inborn error of metabolism less likely. An EEG was also performed and showed normal background activity without epileptiform discharges.
The ophthalmological examination, however, revealed significant abnormalities. The infant showed poor visual fixation and failed to follow moving objects or respond to visual stimuli. Fundoscopy showed bilateral optic nerve pallor, raising suspicion of optic nerve hypoplasia or atrophy.
Further visual electrophysiological testing, including visual evoked potentials (VEPs), demonstrated markedly reduced or absent responses, supporting the diagnosis of severe visual impairment. The findings were consistent with a congenital visual disorder, although the exact etiology remained uncertain. Genetic testing was planned to further investigate underlying hereditary causes, such as Leber congenital amaurosis or other inherited retinal dystrophies. As Marina grew older, the head titubation gradually resolved, typically becoming less noticeable by the end of the first year of life.
Around the age of 12 to 18 months, she began to exhibit involuntary, rhythmic eye movements consistent with nystagmus, which were most prominent when she attempted to focus on objects or in response to bright lights. This transition from head titubation to nystagmus is a well-recognized pattern in children with early-onset severe visual impairment, and it is thought to reflect the evolving compensatory mechanisms that stabilize a deficient visual system. The nystagmus was horizontal and pendular in character, without a null point.
Despite her significant visual impairment, her gross motor development remained within normal limits, with milestones such as crawling and walking achieved only slightly later than expected. Her fine motor skills were developing appropriately, although visual guidance of hand movements remained affected. Cognitive development appeared intact, and she demonstrated good auditory attention, social engagement through voice and touch, as well as appropriate interactive behaviors.
With early intervention, including low vision support and sensory stimulation, her adaptive skills continued to progress well. Speech and language development benefited from targeted therapy and auditory-based learning strategies. The final diagnosis was congenital visual impairment, with secondary head titubation in infancy and subsequent development of sensory nystagmus.
This complex case required a multidisciplinary approach involving professionals from various fields to optimize her development and quality of life, providing comprehensive care and instilling confidence in the audience.
