Abstract
Familial cerebral cavernoma is an autosomal dominant phenotype with incomplete clinical and neuroimaging penetrance. The most common clinical manifestations include seizures and cerebral hemorrhage. We present the case of a 7-year-old boy who developed acute onset facial nerve paralysis secondary to previously unknown familial cerebral cavernoma. Genetic workup revealed a KRIT1 gene deletion which was later confirmed in the patient’s asymptomatic father and younger brother.
1
Introduction
Facial nerve paralysis (FNP) occurs less frequently in children than in adults. Nevertheless, its presentation understandably causes the child and the family tremendous angst. The literature varies on the most common etiology of FNP in the pediatric population based on two main factors: date of publication and geographic location of data collection. While earlier studies suggest Bell’s palsy to be the cause of up to 62% of the cases , recent reports have sought to identify more specific etiologies. More recent studies have shown infection and trauma to be the two leading causes of pediatric FNP . In regions endemic of Lyme disease, however, up to 50% of pediatric FNP are attributable to infection by Borrelia burgdorferi . Less frequent etiologies, such as congenital and neoplastic causes, do occur and should always be kept in a patient’s differential diagnosis. In this article, we report what we believe to be a rare case of a child who presented with FNP secondary to familial cerebral cavernous malformation (CCM).
Cavernous malformations (also called cavernous venous malformations, cavernous hemangiomas, and cavernomas) are ‘blackberry-like,’ ‘popcorn-like’ dark bluish lesions composed of enlarged, blood-filled capillary sinuses, lined with a single layer of endothelium and void of any neural tissue . Pediatric CCMs are not rare and appear with prevalence of about 0.37–0.53% . These lesions represent 5–15% of all CNS vascular malformations and are second only to arteriovenous malformations as main causes of spontaneous intracerebral bleeding in children. Clinical manifestations typically include seizures, headaches, and neurological deficit, mostly due to acute hemorrhage . We present a case of pediatric CCM resulting in right cerebellar peduncular hemorrhage at the level of the intraparenhymal seventh cranial nerve manifesting as acute right-sided FNP.
2
Case
A 7-year-old previously healthy Caucasian male presented from an outside institution with a four-day history of emesis and right-sided facial pain with acute onset mild ataxia and incomplete facial nerve paralysis (House-Brackmann (HB) III/VI). At an outside institution, a CT head exam revealed a 1.2 cm rounded hyperdense acute hemorrhagic lesion in the right middle cerebellar peduncle and dorsal pons region ( Fig. 1 ). Upon arrival, MR brain imaging showed mild edema and mass effect associated with the brainstem intraparenchymal hematoma, and multiple additional, chronic-appearing hemorrhages. The patient was admitted to the pediatric intensive care unit and placed on IV steroids. Nausea and emesis improved over the next two days and the patient was discharged on a steroid taper. No change in facial nerve function was appreciated while in the hospital.
MR acquired 5 weeks after the onset of symptoms (not shown) revealed evolution of blood products within the subacute brainstem hematoma, with similar mild local mass effect and mild edema. Due to the multiple intraparenchymal hemorrhages, a genetic workup was performed. This analysis revealed a CCM1 / KRIT1 gene deletion and the patient was diagnosed with familial cerebral cavernous malformation. Despite steroids, the patient’s facial nerve paralysis worsened and became complete over the next month. An audiogram performed approximately 7 weeks following the onset of symptoms revealed a moderate to severe sensorineural hearing loss on the right side—distortion product otoacoustic emissions (DPOAEs) were present, robust, and repeatable in both ears. Because the patient demonstrated incomplete eye closure, the decision was made to perform an upper eyelid gold weight placement and a lateral tarsal strip procedure. Following this procedure, we noted, unexpectedly, that the patient began to demonstrate significant improvement. Repeat MR imaging, performed just over four months following initial presentation, revealed resolved mass effect and edema associated with the brainstem hematoma, and no new hemorrhages. The patient’s facial nerve function had gradually improved to HB grade II with complete eye closure. Ultimately, over 8 months following initial onset of symptoms, the gold weight was removed. During the final visit, the patient had a repeat audiogram that revealed a return of normal hearing.
2
Case
A 7-year-old previously healthy Caucasian male presented from an outside institution with a four-day history of emesis and right-sided facial pain with acute onset mild ataxia and incomplete facial nerve paralysis (House-Brackmann (HB) III/VI). At an outside institution, a CT head exam revealed a 1.2 cm rounded hyperdense acute hemorrhagic lesion in the right middle cerebellar peduncle and dorsal pons region ( Fig. 1 ). Upon arrival, MR brain imaging showed mild edema and mass effect associated with the brainstem intraparenchymal hematoma, and multiple additional, chronic-appearing hemorrhages. The patient was admitted to the pediatric intensive care unit and placed on IV steroids. Nausea and emesis improved over the next two days and the patient was discharged on a steroid taper. No change in facial nerve function was appreciated while in the hospital.
