Adult-onset adrenoleukodystrophy presenting with status epilepticus and psychosis

Adrenoleukodystrophy (ALD) is an X linked recessive genetic disorder caused by an abnormality in the ABCD1 gene on the X chromosome, that affects 1 in 20 000 people. In X linked adrenoleukodystrophy (X-ALD), a defect in lignoceroyl-coenzyme A ligase causes pathognomonic tissue accumulation of very long chain fatty acids (VLCFA) in the adrenal cortex and nervous system. The phenotypic variability ranges from cerebral inflammatory demyelination of childhood onset, leading to death within 5 years, to adults remaining presymptomatic through more than five decades. Our case is that of a man who was previously diagnosed with bipolar affective disorder presented with dystonic posturing. During transit, he had an episode of generalised convulsive status epilepticus. He presented with spasticity and exaggerated reflexes. Three important signs of adrenal insufficiency were observed: hypotension, hyperpigmentation and comatose state. The diagnosis of X-ALD should be considered in young men presenting with gradually progressive unexplained cognitive and behavioural problems, a strong family history, adrenal insufficiency, bilateral upper motor signs with absent ankle reflexes.

Unexplained worsening of parkinsonian symptoms in a patient with advanced Parkinson’s disease as the sole initial presentation of COVID-19 infection: a case report

Background Parkinson’s disease (PD) is a neurodegenerative condition that has been reported following viral infections in rare occasions. Several neurological complications have emerged in association with coronavirus disease 2019 (COVID-19), since its declaration as a pandemic. Herein, we present a novel case of unexplained worsening of PD as the sole initial presentation of COVID-19, in the absence of fever or respiratory symptoms. Case presentation A 56-year-old male with advanced PD presented with severe rigidity, dystonic posturing of both feet, and confusion of 4 days duration. His condition progressed to an akinetic-rigid state and confusion during the following week, and a routine nasopharyngeal swab tested positive for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) on the 9th day of onset. He developed fever and dyspnea later and was intubated on the 10th day. Conclusion To our knowledge, worsening of PD symptoms as the sole initial manifestation of SARS-CoV-2 infection, in the absence of other cardinal features of COVID-19, has not been reported in the literature. We suggest testing for COVID-19 infection in patients with PD, especially advanced cases, who present with unexplained worsening of symptoms, even in the absence of COVID-19 cardinal features.

An autopsy-proven case of Corticobasal degeneration heralded by Pontine infarction

Background Neurodegenerative disorders are characterized by insidious progression with poorly-delineated long latent period. Antecedent clinical insult could rarely unmask latent neurodegenerative disorders. Here, we report an autopsy-proven case of corticobasal degeneration which was preceded by a lacunar infarction. Case presentation A 58-year-old man presented with acute ataxia associated with a lacunar infarction in the right paramedian pons. His ataxia persisted with additional progressive gait difficulty and left arm clumsiness. Six months later, a follow-up neurological examination showed asymmetrical bradykinesia, apraxia, dystonic posturing, postural instability, and mild ataxia of the left limbs. Cognitive examination revealed frontal executive dysfunction and visuospatial difficulties. Dopamine transporter imaging scan demonstrated bilateral reduced uptakes in mid-to-posterior putamen, more prominent on the right side. Levodopa-unresponsive parkinsonism, asymmetric limb dystonia, and ideomotor apraxia became more conspicuous, while limb ataxia gradually vanished. The patient became unable to walk without assistance after 1 year, and died 4 years after the symptom onset. Autopsy findings showed frontoparietal cortical atrophy, ballooned neurons, and phosphorylated tau-positive astrocytic plaques and neuropil threads with gliosis and neuronal loss, confirming the corticobasal degeneration. Conclusions The case illustrates that precedent clinical events such as stroke might tip a patient with subclinical CBS into overt clinical manifestations.

Pure Distal 7q Duplication: Describing a Macrocephalic Neurodevelopmental Syndrome, Case Report and Review of the Literature

Pure distal duplications of 7q have rarely been described in the medical literature. The term pure refers to duplications that occur without an accompanying clinically significant deletion. Pure 7q duplications of various segments have previously been reported in the literature; however, pure distal 7q duplications have only been reported in 21 cases. Twenty of these earlier reports described patients who were identified via karyotype and 1 recently by microarray. Cases have also been reported in genomic databases such as DECIPHER and the University of California Santa Cruz genome browser. We have reviewed 7 additional cases with distal 7q duplications from these databases and compared them to 7 previously reported distal 7q duplication cases to uncover common features including global developmental delay, frontal bossing, macrocephaly, seizures, kyphoscoliosis/skeletal anomalies, and microretrognathia/palatal anomalies. In this case, we describe a 4-year-old boy with a 30.8-Mb pure duplication of 7q32.1q36.3. Newly reported features associated with this duplication include intermittent dystonic posturing, increased behavioral irritability, eosinophilic esophagitis, segmental vertebral anomalies, and segmental intermittent limb cyanosis. We highlight the importance of using publicly available databases to describe rare genetic syndromes and to better characterize the features of pure distal 7q duplications and further postulate that duplication of this region represents a recognizable macrocephalic neurodevelopmental syndrome.

Paroxysmal kinesigenic dyskinesia: a diagnostic challenge

A 10-year-old girl presented with a month long history of episodic limb movements. She had a normal neurological examination and after thorough investigation, she was thought to have possible tics. Anxiety was reported as being a trigger. Unusually, these ‘tics’ were not directly witnessed during hospital visits. Eighteen months after the initial presentation, the clinician observed dystonic posturing after the child stood up from having been seated during a consultation. Paroxysmal kinesigenic dyskinesia (PKD) was then suspected and confirmed on genetic testing. She was successfully treated with carbamazepine. In hindsight, it became apparent that her anxiety was related to a fear of uncontrolled movements, rather than it being a trigger. The abnormal involuntary movements in PKD are precipitated by sudden voluntary movement. Lack of recognition of this typical feature, normal examination and/or features such as coexisting anxiety can lead to misdiagnosis or delayed diagnosis of this easily treatable condition.

Intrathecal baclofen therapy for Lesch-Nyhan disease: illustrative case

BACKGROUNDLesch-Nyhan disease (LND) is a very rare metabolic disorder involving the purine salvage pathway. LND manifests hyperuricemia, self-mutilation, cognitive impairment, and movement disorders such as spasticity and dystonia, whose control is difficult pharmaceutically.OBSERVATIONSIntrathecal baclofen (ITB) therapy was received by a 22-year-old male for generalized dystonia. His paroxysmal abnormal dystonic posturing reduced after surgery, making the task of caregivers easier despite the unchanged assignment on the dystonia scale during a follow-up period of 4 years.LESSONSITB may be a safe and feasible option for dystonic symptoms and difficulty with nursing care in patients with LND.

Corticobasal syndrome with Balint syndrome: a clue for Alzheimer disease pathology

Context: Balint syndrome (BS), first described in 1909, has three core features: optic ataxia, oculomotor apraxia and simultanagnosia, and has been described after various conditions amongst vascular, infectious, demyelinating and degenerative diseases1 . It has already been reported concomitant with corticobasal syndrome (CBS)2 . Case report: 59 year-old male without history of previous diseases presented with behavior changes in the last two years. He had a previous diagnosis of “stroke” because frequent falls to the left side and difficulty in using his left hand for simple daily activities. After that, he gradually evolved with visual problems (bumped into objects inside his house), fear of walking or sitting, and required constant assistance for basic activities of daily living. On physical examination he presented with clear visuospatial dysfunction, characterized by simultanagnosia, oculomotor apraxia and optic ataxia. Bilateral asymmetric upper limb apraxia (worse on left side), dystonic posturing and stimulus-sensitive myoclonus in the left arm were also present. No signs of parkinsonism or language/speech disturbances were identified. Brain MRI showed severe asymmetric biparietal lobe atrophy (right more than left). DISCUSSION: The pathologic findings underlying CBS are variable, including Corticobasal Degeneration, Progressive Supranuclear Palsy, Frontotemporal Lobar Degeneration and Alzheimer Disease (AD). The association of BS and CBS favors the possibility of AD pathologic findings3 . Imaging methods like FDG-PET have recently been shown to be capable of distinguishing AD-related CBS from those associated with other pathologies4 . FDG-PET is not widely available in our country; than the presence of BS in CBS patients may individualize their treatment.

Hemiplegic cerebral palsy complicated by acute hemidystonia in adulthood

Practical Implication:Dystonia following a perinatal injury can have a long latency period in decades, sometimes difficult to treat and may not respond to medical therapy, where deep brain stimulation is another treatment option.Background:Dystonia is defined as a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both, and hemidystonia is dystonic posturing involving one side. (1) Our patient had adolescent-onset, persistent, progressive hemidystonia ( Axis 1 ) secondary to contralateral basal ganglia injury at birth (Axis 2 ) according to recent consensus. (1) He presented as an acute hemidystonic attack with rhabdomyolysis (CPK = 6500 IU/L) and involvement of bulbar and respiratory system with no new structural lesion which is a rare presentation of delayed hemidystonia following perinatal injury.

Paroxysmal Sympathetic Hyperactivity

Paroxysmal sympathetic hyperactivity (PSH) is a relatively common, but often unrecognized, complication of acute diffuse or multifocal brain diseases, most frequently encountered in young comatose patients with severe traumatic brain injury. It is presumed to be caused by loss of cortical inhibitory modulation of diencephalic and brain stem centers and possible additional maladaptive changes in the spinal cord that combine to produce exaggerated sympathetic responses to stimulation. The syndrome consists of repeated sudden episodes of tachycardia, tachypnea, hypertension, sweating, and sometimes fever and dystonic posturing. The diagnosis is clinical. Treatment includes reducing any external stimulation that can trigger the episodes, and starting abortive (e.g., intravenous morphine) and preventive medications (e.g., gabapentin, propranolol, clonidine). Prompt and adequate treatment of PSH may reduce the likelihood of secondary complications, such as dehydration, weight loss and malnutrition, and muscle contractures.

Glutaric Aciduria Type 1: A Case Report and Review of Literature

An 8-month-old male infant patient was referred to our institution (from elsewhere) with a history of fever, convulsions, dystonic posturing, altered sensorium, and loss of motor and mental milestones since past 1 month. Upon admission to our institution, a neuroimaging (magnetic resonance imaging of the brain) revealed frontoparietal atrophy, “bat-wing appearance,” and basal ganglia changes. Carnitine and acylcarnitine profile revealed low total carnitine, very low free carnitine, and low free/acylcarnitine ratio, with normal levels of plasma amino acids. Urine gas chromatography mass spectrometry showed an elevated level of ketones (3-hydroxybutyric acid and acetoacetate) and glutaric acid with the presence of 3-hydroxyglutaric acid, suggestive of glutaric aciduria type 1. Diet modification and pharmacotherapy with riboflavin and carnitine arrested the neurological deterioration in the patient.