Artery of Percheron Ischaemic Stroke: A Classic Presentation of a Rare Case

The artery of Percheron (AoP) is a rare anatomic variant, where the paramedian thalami and the rostral midbrain are supplied by an artery emerging from the P1 segment of the posterior cerebral artery. Ischaemic infarction of the artery of Percheron occurs rarely, accounting for 0.1 to 2% of all ischaemic strokes. AoP occlusion can lead to an infarction of the paramedian thalami and mesencephalon, resulting in a triad of clinical features; namely, altered mental status, vertical gaze palsy and memory impairment. A larger mesencephalon infarction can also feature oculomotor disturbances. We describe here the case of an 88-year-old patient, presenting with this triad of features.

Clinical Variability of SYNJ1-Associated Early-Onset Parkinsonism

Autosomal recessive early-onset parkinsonism is clinically and genetically heterogeneous. Mutations of three genes, PRKN, PINK1, and DJ-1 cause pure phenotypes usually characterized by levodopa-responsive Parkinson's disease. By contrast, mutations of other genes, including ATP13A2, PLA2G6, FBXO7, DNAJC6, SYNJ1, VPS13C, and PTRHD1, cause rarer, more severe diseases with a poor response to levodopa, generally with additional atypical features. We performed data mining on a gene panel or whole-exome sequencing in 460 index cases with early-onset (≤ 40 years) Parkinson's disease, including 57 with autosomal recessive disease and 403 isolated cases. We identified two isolated cases carrying biallelic mutations of SYNJ1 (double-heterozygous p.D791fs/p.Y232H and homozygous p. Y832C mutations) and two siblings with the recurrent homozygous p.R258Q mutation. All four variants were absent or rare in the Genome Aggregation Database, were predicted to be deleterious on in silico analysis and were found to be highly conserved between species. The patient with both the previously unknown p.D791fs and p.Y232H mutations presented with dystonia-parkinsonism accompanied by a frontal syndrome and oculomotor disturbances at the age of 39. In addition, two siblings from an Algerian consanguineous family carried the homozygous p.R258Q mutation and presented generalized tonic-clonic seizures during childhood, with severe intellectual disability, followed by progressive parkinsonism during their teens. By contrast, the isolated patient with the homozygous p. Y832C mutation, diagnosed at the age of 20, had typical parkinsonism, with no atypical symptoms and slow disease progression. Our findings expand the mutational spectrum and phenotypic profile of SYNJ1-related parkinsonism.

Clinical spectrum and diagnostic pitfalls of neurologic syndromes with Ri antibodies

ObjectiveTo describe the main syndrome and clinical course in a large cohort of patients with anti–Ri-associated paraneoplastic neurologic syndrome (Ri-PNS).MethodsTwenty-year retrospective nationwide study and systematic review of the literature.ResultsThirty-six patients with complete clinical information were identified (median age 66 years, range: 47–87 years). In this French cohort, the majority were women (78%). At onset, 4 main patterns were observed: cerebellar syndrome (39%), isolated tremor (24%), oculomotor disturbances (17%), and other symptoms (19%). Course was multistep for 78% of cases. At the time the disease reached the plateau phase (median 12 weeks, range: 1–64 weeks; 28% >3 months), 24 (67%) showed an overt cerebellar syndrome, which was isolated in 3 patients, and was most frequently (21/24 cases) part of a multisystem neurologic disease. Patients manifested a variety of movement disorders, including myoclonus (33%), dystonia (17%), either cervical or oromandibular, and parkinsonism (17%). Most patients had cancer (92%), mainly breast cancer (n = 22). Misdiagnoses concerned 22% of patients (n = 8) and included atypical parkinsonism (n = 2), MS (n = 2), Bickerstaff encephalitis (n = 1), hyperekplexia (n = 1), vestibular neuritis (n = 1), and functional neurologic disorder (n = 1). Survival at 12 months was 73% (95% CI [0.54–0.85]), at 24 months 62% (95% CI [0.41–0.78]), and at 36 months 47% (95% CI [0.25–0.65]). There was no major clinical difference between cases retrieved from the systematic review of the literature (n = 55) and the French cohort.ConclusionsRi-PNS is a multisystem neurologic syndrome with prominent cerebellum/brainstem involvement. Opsoclonus-myoclonus is less common than expected, and the disorder can mimic neurodegenerative diseases.

Microsurgical Management of Midbrain Cavernous Malformations: Predictors of Outcome and Lesion Classification in 72 Patients

BACKGROUND Due to the complex segmental organization of the brainstem, it is preferable to study midbrain cavernous malformations (MCMs) separately from pontine and medullary lesions. OBJECTIVE To evaluate clinical results after microsurgical removal of MCMs, assess predictors for outcome and introduce a topographical classification of MCMs. METHODS A retrospective study was conducted on consecutive patients who underwent MCM resection. Clinical parameters before and after surgery, morphological CM features, surgical approaches and outcomes were analyzed. MCMs were classified according to their exact location within the midbrain and their axial and sagittal extension. RESULTS The authors reviewed 72 patients (35 male). Lesions varied in size between 4 and 55 mm. The vast majority of patients benefited from surgery. The mean modified Rankin Scale (mRS) decreased significantly from 1.6 at admission to 1.3 at discharge and to 0.7 at follow-up (6-247 mo postoperatively). Five patients (6.9%) suffered from delayed hypertrophic olivary degeneration as visualized on magnetic resonance imaging. One male suffered from early postoperative re-bleeding that required surgical hematoma evacuation. There were no severe long tract impairment or other disabling complications, no delayed re-bleedings, and no surgical mortality. CONCLUSION We present a new topographic classification of MCMs that may be useful for predicting the occurrence of postoperative eye movement disorders. Other predictors of persistent oculomotor disturbances are time interval between onset of symptoms and surgery, and patient's age over 40 yr. Early surgery is recommendable in patients with oculomotor disturbances. MCM size over 18 mm, patient age over 40 yr, and poor mRS at admission are important predictors for the long-term outcome.

Neonatal hypoglycemia in the De Morsier syndrome

The article discusses the causes and diagnostic criteria of the septo-optic dysplasia or De Morsier syndrome. De Morsier syndrome attracts attention of endocrinologists due to the development secondary hypofunction of the endocrine glands and somatotropic deficiency associated with this disease. Septo-optic dysplasia is a polyetiologic disease. The relationship of the disease with the antenatal influence of alcohol, narcotic substances, neurotropic drugs, significant perinatal infections, maternal endocrine diseases, gene mutations, in particular, mutations in the HESX1 gene, encoding the pituitary transcription factors involved in the embryogenesis of the adenohypophysis. We report a clinical case of the disease accompanied by congenital hypopituitarism symptoms. The disease manifested in the neonatal period. The child had severe hypoglycemia in combination with neurological symptoms in the form muscle hypotonia and oculomotor disturbances. The diagnosis of the De Morsier syndrome was verified by the results of MRI of the brain. Endocrine disorders in this patient were characterized by low levels of ACTH, cortisol, IGF-1, and free T4. The administered therapy corrected endocrine disorders in the child. In summary, septo-optic dysplasia or De Morsier syndrome is the subject to interdisciplinary attention of neonatologists, endocrinologists, neurologists, optometrists, and geneticists.

Neonatal hypoglycemia in the De Morsier syndrome

The article discusses the causes and diagnostic criteria of the septo-optic dysplasia or De Morsier syndrome. De Morsier syndrome attracts attention of endocrinologists due to the development secondary hypofunction of the endocrine glands and somatotropic deficiency associated with this disease. Septo-optic dysplasia is a polyetiologic disease. The relationship of the disease with the antenatal influence of alcohol, narcotic substances, neurotropic drugs, significant perinatal infections, maternal endocrine diseases, gene mutations, in particular, mutations in the HESX1 gene, encoding the pituitary transcription factors involved in the embryogenesis of the adenohypophysis. We report a clinical case of the disease accompanied by congenital hypopituitarism symptoms. The disease manifested in the neonatal period. The child had severe hypoglycemia in combination with neurological symptoms in the form muscle hypotonia and oculomotor disturbances. The diagnosis of the De Morsier syndrome was verified by the results of MRI of the brain. Endocrine disorders in this patient were characterized by low levels of ACTH, cortisol, IGF-1, and free T4. The administered therapy corrected endocrine disorders in the child. In summary, septo-optic dysplasia or De Morsier syndrome is the subject to interdisciplinary attention of neonatologists, endocrinologists, neurologists, optometrists, and geneticists.