Ersin Tan

Cerebellar ataxia associated with hypogonadotropic hypogonadism and chorioretinopathy: a poorly recognized association

We report a male with cerebellar ataxia, hypogonadism and chorioretinopathy. The age of onset was 12. The parents were first cousins. Endocrinologic studies demonstrated hypogonadotropic hypogonadism due to pituitary dysfunction. The ocular disorder involved the choriocapillaris and the retina. The association may represent a separate syndrome, seldom recognized in the past.

Acute bilateral cerebellar infarction in the territory of the medial branches of posterior inferior cerebellar arteries

The most frequent type of cerebellar infarcts involved the posterior inferior cerebellar artery (PICA) and superior cerebellar artery territories but bilateral involvement of lateral or medial branches of PICA is extremely rare. In this report, we present a 55-year-old male who admitted to hospital with vomiting, nausea and dizziness. On examination left-sided hemiparesia and ataxic gait were detected. Infarct on bilateral medial branch of PICA artery territories was found out with cranial magnetic resonance imaging (MRI) technique and 99% stenosis of the left vertebral artery was found out with digital subtraction arteriography. The patient was put on heparin treatment. After 3 weeks, his complaints and symptoms had disappeared except for mild gait ataxia.

Progressive Hemifacial Atrophy with Localized Scleroderma

We describe a patient with localized scleroderma in association with homolateral atrophy of the tongue and marked ipsilateral facial hemiatrophy which was confirmed histologically. CT scan coronal sections of the face showed severe atrophy of the tongue and facial muscles. The EMG studies failed to demonstrate a neurogenic or myogenic process.

LGI1 related limbic encephalitis and response to immunosuppressive therapy

Limbic encephalitis (LE) is characterized by a subacute onset of episodic memory impairment, disorientation, agitation, seizures and histological evidence of mesial temporal lobe inflammation. It is usually considered to have a paraneoplastic origin and is associated with specific autoantibodies in various cancers [1]. The non-paraneoplastic form has similar clinical and neuroradiological presentation. In these cases antibodies usually target voltage-gated potassium channels (VGKC) or glutamic acid decarboxylase and are, therefore, accepted as immunotherapyresponsive syndromes. Potassium channel antibodies were reported in two patients with reversible LE for the first time in 2001 [2]. Very recently, however, Dalmau et al. showed that the autoantigen associated with LE previously attributed to VGKC is, in fact, leucine-rich, glioma inactivated 1 (LGI1), a neuronal secreted protein [3]. Since this is a relatively rare condition, there have been very few publications on the clinical findings, treatment and follow-up results in this group of patients [3–6] and the optimum treatment regimen is still unknown. In this case report we present a young male patient who did not respond to plasma exchange therapy, but improved rapidly and significantly after IV pulse steroid infusion. A 31-year-old man was admitted for confusional state that had started 1 month ago. He had fever, vomiting and headache at the onset. His past medical history was unremarkable. Physical and neurologic examinations were normal apart from confusion and short-term memory deficits. Cranial MRI revealed hyperintense signals in bilateral hippocampi and the amygdaloid nuclei with little contrast enhancement (Fig. 1). At the onset of his complaints he was admitted to another hospital where he was diagnosed with herpes encephalitis and was given acyclovir without any benefit. In our clinic, blood studies including complete blood count, liver and renal function tests, tumor markers and paraneoplastic antibody analysis (anti-Hu, -Yo, -Ri, -Ma, -CV2) were all normal. Serum electrolyte analysis revealed mild hyponatremia (132 mEq/L). Cerebrospinal fluid (CSF) protein and glucose levels were normal. Analysis of CSF cytology showed increased mononuclear cells. Herpes PCR was negative. Thorax– abdomen CT scans, scrotal-pelvic ultrasonography and whole body fluorodeoxyglucose-positron emission tomography were negative for malignancy. He had two temporal lobe seizures during his follow up. Electroencephalography revealed bilateral generalized mild slow wave paroxysms, without epileptiform discharges. The patient was put on oxcarbazepine (OXC), and did not have any further seizures. In order to investigate the presence of nonparaneoplastic LE, serum and CSF samples were sent to Dr. J. Dalmau’s laboratory where antibodies for NMDA receptors and VGKC antibodies were studied. Meanwhile, the patient had six exchanges of 1.5 plasma volumes on alternate days. We could not give intravenous immunoglobulin (IVIg) because his IgA levels were very low. No clinical response was obtained in the first week after treatment with plasmapheresis and the patient was discharged from hospital. One month later we were informed that he had antibodies against LGI1. The patient was hospitalized again for IV pulse steroid treatment. At that time, his orientation in time and space had partially improved; however, he still had severe memory deficits. He had difficulty in remembering some recent events. After the B. Kaymakamzade T. Kansu E. Tan N. Dericioglu (&) Department of Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey e-mail: noroloji2011@gmail.com

Parinaud Syndrome due to Solitary Pineal Metastasis

Parinaud syndrome due to metastatic lesion of the pineal gland has been reported rarely in the literature. We present a case of Parinaud syndrome with solitary pineal metastasis of an oat cell carcinoma.

Severe ptosis without ophthalmoplegia due to porphyric neuropathy

In this case report, we present a patient with severe ptosis without ophthalmoplegia due to porphyric neuropathy. This could be explained only by selective involvement of oculomotor nuclei.

Alternating Horner's syndrome: A case report and review of the literature

In this article, the authors present a case with alternating Horners syndrome due to Shy-Dragers syndrome, with a literature review of this uncommon ocular sign.

Paraneoplastic striatal encephalitis and myelitis associated with anti-CV2/CRMP-5 antibodies in a patient with small cell lung cancer

Paraneoplastic neurological syndromes (PNS) affecting the central nervous system are infrequent, presenting in< 1% of all those with cancer. The relevant auto-antibodies, that are detected in serum or cerebrospinal fluid, can target either neuronal cytoplasmic/nuclear proteins or neuronal cell surface proteins such as ion channels. The type of antibodies detected may determine the underlying malignancy and also response to immunotherapy. Anti-CV2/CRMP-5 is a 62-kDa neuronal cytoplasmic protein of the collapsin response-mediator family that is usually correlated with thymoma or small cell lung cancer (SCLC). The PNS associated with antiCV2/CRMP-5 is generally characterized by encephalomyelitis, paraneoplastic sensory neuronopathy, uveitis or chorea [1]. We have recently encountered a patient with prominent motor weakness and behavioral changes whose cranial MR investigation was compatible with striatal encephalitis and spinal MR imaging revealed longitudinal myelitis. Paraneoplastic antibody screening was positive for anti-CV2/ CRMP-5 antibodies. Meticulous workup disclosed small cell lung cancer (SCLC) as the underlying pathology.

'Apraxia' of eyelid closure and phonation: A case with Spect findings

Although eyelid and extraocular movement abnormalities have been occasionally seen in progressive supranuclear palsy, inability of eyelid closure and ‘apraxia’ of phonation have been reported rarely in the literature. Recently, the authors encountered a patient with these initial symptoms whose SPECT revealed marked hypoperfusion defects, in the frontal subcortical region.