Expanding the ß-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration.

(1) Background: A non-progressive congenital ataxia (NPCA) phenotype caused by ß-III spectrin (SPTBN2) mutations has emerged, mimicking spinocerebellar ataxia, autosomal recessive type 14 (SCAR14). The pattern of inheritance, however, resembles that of autosomal dominant classical spinocerebellar ataxia type 5 (SCA5). (2) Methods: In-depth phenotyping of two boys studied by a customized gene panel. Candidate variants were sought by structural modeling and protein expression. An extensive review of the literature was conducted in order to better characterize the SPTBN2-associated NPCA. (3) Results: Patients exhibited an NPCA with hypotonia, developmental delay, cerebellar syndrome, and cognitive deficits. Both probands presented with progressive global cerebellar volume loss in consecutive cerebral magnetic resonance imaging studies, characterized by decreasing midsagittal vermis relative diameter measurements. Cortical hyperintensities were observed on fluid-attenuated inversion recovery (FLAIR) images, suggesting a neurodegenerative process. Each patient carried a novel de novo SPTBN2 substitution: c.193A > G (p.K65E) or c.764A > G (p.D255G). Modeling and protein expression revealed that both mutations might be deleterious. (4) Conclusions: The reported findings contribute to a better understanding of the SPTBN2-associated phenotype. The mutations may preclude proper structural organization of the actin spectrin-based membrane skeleton, which, in turn, is responsible for the underlying disease mechanism.

Posttraumatic Delayed Jugular Foramen Syndrome in a Toddler.

BACKGROUND: Multiple lower cranial nerve palsies have been attributed to occipital condyle fractures in older children and adults, but no clinical details of other possible mechanisms have been described in infants. CASE REPORT: A 33-month-old boy suffered blunt head trauma. A bilateral skull base fracture was diagnosed, with favorable outcome during the first days after trauma. On the sixth day, the patient began to refuse drinking and developed hoarseness. Physical examination and additional investigations revealed paralysis of left VII, IX, X, and XI cranial nerves. A follow-up computed tomography (CT) scan disclosed a left petrous bone fracture involving the lateral margin of the jugular foramen, and a cranial magnetic resonance imaging (MRI) study showed a left cerebellar tonsil contusion. He improved after methylprednisolone was started. Three months later, he was asymptomatic, although mild weakness and atrophy of the left sternocleidomastoid and trapezius muscles remained 1 year later. DISCUSSION: A posttraumatic "jugular foramen syndrome" is rare in children, but it has been reported shortly after occipital condyle fracture, affecting mainly IX, X, and XI cranial nerves. In this toddler, delayed symptoms appeared with unilateral involvement. While an occipital fracture was ruled out, neuroimaging findings suggest the hypothesis of a focal contusion as a consequence of a coup-contrecoup injury. CONCLUSION: This exceptional case highlights the importance of gathering physical examination, anatomical correlation, and neuroimaging to yield a diagnosis.