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.

Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report.

BACKGROUND: Silver-Russell Syndrome (SRS) is a rare growth-related genetic disorder mainly characterized by prenatal and postnatal growth failure. Although molecular causes are not clear in all cases, the most common mechanisms involved in SRS are loss of methylation on chromosome 11p15 (≈50%) and maternal uniparental disomy for chromosome 7 (upd(7)mat) (≈10%). CASE PRESENTATION: We present a girl with clinical suspicion of SRS (intrauterine and postnatal growth retardation, prominent forehead, triangular face, mild psychomotor delay, transient neonatal hypoglycemia, mild hypotonia and single umbilical artery). Methylation and copy number variations at chromosomes 11 and 7 were studied by methylation-specific multiplex ligation-dependent probe amplification and as no alterations were found, molecular karyotyping was performed. A deletion at 5p15.33p15.2 was identified (arr[GRCh37] 5p15.33p15.2(25942-11644643)× 1), similar to those found in patients with Cri-du-chat Syndrome (CdCS). CdCS is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5 (5p-), whose main feature is a high-pitched mewing cry in infancy, accompanied by multiple congenital anomalies, intellectual disability, microcephaly and facial dysmorphism. CONCLUSIONS: The absence of some CdCS features in the current patient could be due to the fact that in her case the critical regions responsible do not lie within the identified deletion. In fact, a literature review revealed a high degree of concordance between the clinical manifestations of the two syndromes.