Psychiatric disease in an adolescent as a harbinger of cerebral X-linked adrenoleukodystrophy

2017 ◽  
Vol 18 (3) ◽  
pp. 242-245 ◽  
Author(s):  
Jessica Smith ◽  
Mitchel T Williams ◽  
Vinod K Misra
Keyword(s):  
Clinical Course ◽  
Psychiatric Symptoms ◽  
Psychiatric Disease ◽  
Disease Course ◽  
Adult Onset ◽  
Adrenocortical Insufficiency ◽  
Hyperactivity Disorder ◽  
Life Saving ◽  
Atypical Presentations ◽  
Biochemical Abnormalities

X-linked adrenoleukodystrophy (XALD) typically presents as a childhood cerebral demyelinating form, as an adult-onset adrenomyeloneuropathy or as adrenocortical insufficiency. Cerebral demyelination presenting in adolescence is unusual. We present an 17-year-old boy with adolescent-onset XALD initially manifesting with slowly progressive psychiatric symptoms. He was initially diagnosed with attention-deficit hyperactivity disorder and an acute psychosis. However, he was ultimately diagnosed with XALD based on his clinical course, neuroimaging findings and biochemical abnormalities. This case reiterates the atypical presentations of adolescent-onset cerebral XALD that may go unrecognised and misdiagnosed as a neurodevelopmental or psychiatric disease. Treatments for cerebral ALD are potentially life-saving, particularly when given early in the disease course.

Child and adolescent neuropsychiatry

2020 ◽  
pp. 359-378
Author(s):  
Yulia Furlong ◽  
Wai Chen
Keyword(s):  
Fetal Alcohol Spectrum Disorders ◽  
Psychiatric Symptoms ◽  
Wide Spectrum ◽  
Fetal Alcohol ◽  
Brain Disorder ◽  
Neuropsychiatric Manifestation ◽  
Hyperactivity Disorder ◽  
Exact Boundary ◽  
Mitigating Factors ◽  
Atypical Presentations

Child neuropsychiatry encompasses childhood and adolescent psychiatric syndromes of neurobiological origins. It is an evolving discipline without consensus on its exact boundary. Given the inconsistencies, this chapter provides a historical perspective through which different conceptualizations of child neuropsychiatry can be understood and reconciled within the coherent whole. Four specific contrasting conditions are selected in this chapter to illustrate some key principles: attention-deficit/hyperactivity disorder (ADHD) as ‘a diffuse brain disorder’; childhood cranial tumours as ‘a localized brain disorder’; fetal alcohol spectrum disorders (FASD) as ‘a disorder of a specific cause’ represented by toxin exposure; and epilepsy as ‘a disorder of complex aetiology’. ADHD and cranial tumours represent the extremes of the polar divide between ‘a childhood neuropsychiatric disorder’ and ‘the neuropsychiatric manifestation of a childhood neurological disorder’. In contrast, FASD and epilepsy illustrate how specific and complex aetiology can present with a wide spectrum of psychiatric disorders. Atypical presentations of psychiatric symptoms, idiosyncratic treatment response, and ‘diagnostic overshadowing’ are also considered. The chapter emphasizes that child neuropsychiatric conditions are not fixed entities, despite conforming to diagnostic criteria stipulated by authoritative taxonomic systems. Rather, they are the results of the dynamic interplay between environmental factors, developmental maturity, mitigating factors, aberrant neural networks, and innate disease liability.

An audit and insights from clinical exome sequencing in psychiatry: genotype-phenotype correlation

2020 ◽  
Author(s):  
Jayant Mahadevan ◽  
Reeteka Sud ◽  
Ravi Kumar Nadella ◽  
Vani P ◽  
Anand G Subramaniam ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Psychiatric Symptoms ◽  
Pathogenic Variant ◽  
Clinical Exome Sequencing ◽  
Mapt Gene ◽  
Nf1 Gene ◽  
Novel Variant ◽  
History Of ◽  
Atypical Presentations ◽  
Minor Physical Anomalies

BACKGROUND:Psychiatric syndromes have polymorphic symptomatology, and are known to be heritable. Psychiatric symptoms (and even syndromes) often occur as part of the clinical presentation in rare Mendelian syndromes. Clinical exome sequencing reports may help with refining diagnosis and influence treatment decisions, in addition to providing a window into the biology of brain and behaviour. We describe a clinical audit of 12 individuals who sought treatment at our hospital, and for whom targeted sequencing was ordered. Three cases are discussed in detail to demonstrate correlations between genotype and phenotype in the clinic.METHODS:Targeted Next-Generation Sequencing (NGS) was done using Clinical Exome Panel (TruSight One, Illumina) covering coding exons and flanking intronic sequences of 4811 genes associated with known inherited diseases. Variants detected were classified according to the American College for Medical Genetics (ACMG) recommendation for standards of interpretation and reporting of sequence variations.RESULTS:Ten out of twelve cases had at least one pathogenic variant. In one of these cases, we detected a known pathogenic variant in MAPT gene in a suspected FTD case, which helped us to confirm the diagnosis. In another case, we detected a novel variant predicted to be deleterious in NF1 gene. Identification of this mutation suggested a change in treatment for the patient, that was of benefit. The same patient also harboured a novel variant in the TRIO gene. This gene may be involved in biological processes that underlie the patient’s psychiatric illness.CONCLUSIONS:The cases discussed here exemplify different scenarios under which targeted exome sequencing can find meaningful application in the clinic: confirming diagnosis (MAPT variant), or modifying treatment (NF1). We suggest that clinical exome sequencing can be a helpful addition to a clinician’s toolkit when there are expediting factors to consider— such as early-onset, strong family history of mental illness, complex/atypical presentations and minor physical anomalies or neurocutaneous markers.

scholarly journals Adult-onset sporadic chorea: real-world data from a single-centre retrospective study

2021 ◽  
Author(s):  
Roberta Bovenzi ◽  
Matteo Conti ◽  
Rocco Cerroni ◽  
Mariangela Pierantozzi ◽  
Alessandro Stefani ◽  
...  
Keyword(s):  
Clinical Examination ◽  
Real World ◽  
Laboratory Tests ◽  
Clinical Course ◽  
Diagnostic Workup ◽  
Adult Onset ◽  
Real World Data ◽  
Term Outcome ◽  
Long Term Outcome ◽  
World Data

Abstract Background Adult-onset sporadic chorea includes a wide and heterogeneous group of conditions whose differential diagnosis and treatments are often challenging and extensive. Objectives To analyse retrospectively cases of adult-onset sporadic chorea from a single Italian centre to provide insights for a practical approach in the management of these patients. Methods A total of 11,071 medical charts from a 9-year period (2012–2020) were reviewed, identifying 28 patients with adult-onset sporadic chorea (genetic forms excluded). All available data regarding phenomenology, diagnostic workup, aetiology, treatments, and long-term outcome from this cohort were collected and analysed. Results Adult-onset sporadic chorea occurred more frequently in females and presented with an acute-subacute onset. Cerebrovascular diseases accounted for 68% of aetiology; further causes were structural brain lesions, internal diseases, and other movement disorder syndromes. Clinical course was mild, with spontaneous resolution or minimal disturbances in 82% of cases. Neuroimaging was fundamental to diagnose 76% of adult-onset sporadic chorea, an appropriate clinical examination contributed to the 14% of diagnoses, whereas basic laboratory tests to the 10%. Conclusions Revision of real-world data of adult-onset sporadic chorea patients from a single Italian cohort suggests that an accurate clinical examination, neuroimaging, and routine laboratory tests are useful to identify those cases underlying potentially severe but treatable conditions. Although in the majority of cases adult-onset sporadic chorea has mild clinical course and good response to symptomatic treatments, it is essential to run a fast diagnostic workup.

Association of apolipoprotein E and myeloperoxidase genotypes to clinical course of familial and sporadic multiple sclerosis

2004 ◽  
Vol 10 (3) ◽  
pp. 266-271 ◽  
Author(s):  
B Zakrzewska-Pniewska ◽  
M Styczynska ◽  
A Podlecka ◽  
R Samocka ◽  
B Peplonska ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Apolipoprotein E ◽  
Brain Atrophy ◽  
Genetic Factors ◽  
Clinical Course ◽  
Progression Rate ◽  
Disease Course ◽  
Familial Cases ◽  
Sporadic Cases ◽  
The Relationship

The importance of apolipoprotein E (ApoE) and myeloperoxidase (MPO) genotypes in the clinical characteristics of multiple sclerosis (MS) has been recently emphasized. In a large group of Polish patients we have tested the hypothesis that polymorphism in ApoE and MPO genes may influence the course of the disease. G enotypes were determined in 117 MS patients (74 females and 43 males; 99 sporadic and 18 familial cases) with mean EDSS of 3.6, mean age of 44.1 years, mean duration of the disease 12.8 years and mean onset of MS at 31.2 years, and in 100 healthy controls. The relationship between ApoE and MPO genes’ polymorphism and the MS activity as well as the defect of remyelination (diffuse demyelination) and brain atrophy on MRI were analysed. The ApoE o4 allele was not related to the disease course or the ApoE o2 to the intensity of demyelination on MRI. The genotype MPO G/G was found in all familial MS and in 57% (56/99) of sporadic cases. This genotype was also related to more pronounced brain atrophy on MRI. The MPO G/G subpopulation was characterized by a significantly higher proportion of patients with secondary progressive MS (PB- 0.05) and by a higher value of EDSS. A ccording to our results the MPO G allele is frequently found (in 96% of cases) among Polish patients with MS. More severe nervous tissue damage in the MPO G/G form can be explained by the mechanism of accelerated oxidative stress. It seems that MPO G/G genotype may be one of the genetic factors influencing the progression rate of disability in MS patients.

scholarly journals Sa1248 Late Adult-Onset Inflammatory Bowel Disease Patients Require Surgery Earlier During Their Disease Course Compared to Early Adult-Onset Patients

2012 ◽  
Vol 142 (5) ◽  
pp. S-253-S-254 ◽  
Author(s):  
Christina Y. Ha ◽  
Theodore M. Bayless ◽  
Alain Bitton ◽  
Judy H. Cho ◽  
Richard H. Duerr ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Bowel Disease ◽  
Disease Course ◽  
Adult Onset ◽  
Inflammatory Bowel

Clinical Features and Prognosis of Adult-onset Still’s Disease: 61 Cases from China

2009 ◽  
Vol 36 (5) ◽  
pp. 1026-1031 ◽  
Author(s):  
TING ZENG ◽  
YU-QIONG ZOU ◽  
MEI-FANG WU ◽  
CHENG-DE YANG
Keyword(s):  
Prognostic Factors ◽  
Clinical Features ◽  
Chinese Patients ◽  
Adult Onset Still’S Disease ◽  
Disease Course ◽  
Adult Onset ◽  
Still’S Disease ◽  
Laboratory Findings ◽  
Still's Disease ◽  
Adult Onset Still's Disease

Objective.To describe the onset, clinical features, prognostic factors, and treatment of adult-onset Still’s disease (AOSD) in cases from China.Methods.Sixty-one Chinese patients with AOSD were analyzed retrospectively.Results.Common clinical features were fever (100.0%), rash (88.5%), and arthritis (82.0%). The laboratory findings were as follows: leukocytosis (83.6%), increased erythrocyte sedimentation rate (100.0%), elevated transaminase concentrations (23.0%), elevated ferritin levels (79.6%), negative antinuclear antibody (88.5%), and negative rheumatoid factor (88.5%). Of the 61 patients, 44.3% exhibited a monocyclic disease pattern, 29.5% experienced disease relapse at least once, 16.4% exhibited chronic articular course, and 9.8% died; most deaths were due to pulmonary infection and respiratory failure. Based on the disease course, we divided the 61 patients into 2 groups: those with favorable outcome (cyclic disease course, n = 45) and unfavorable outcome (chronic disease course or death, n = 16). We analyzed the prognostic factors for the 2 groups, and found that pleuritis, interstitial pneumonia, elevated ferritin levels, and failure of fever to subside after 3 days of prednisolone at 1 mg/kg/day were unfavorable prognostic factors for patients with AOSD.Conclusion.Patients with AOSD had complex symptoms with no specific laboratory findings. Our results indicate that AOSD is not a relatively benign disease, especially in cases that are refractory to high doses of prednisone.

Adult-Onset Mast Cell Activation Syndrome Following Scombroid Poisoning a case report and review of the literature

2021 ◽  
Author(s):  
Isabelle Brock ◽  
Nicole Eng ◽  
Anne Maitland
Keyword(s):  
Mast Cell ◽  
Cell Activation ◽  
Psychiatric Symptoms ◽  
Adult Population ◽  
Relevant Literature ◽  
Mast Cell Activation ◽  
Response To Treatment ◽  
Adult Onset ◽  
Mast Cell Activation Syndrome ◽  
Activation Syndrome

Abstract Mast Cell Activation syndrome (MCAS) is a clinical condition, defined by the combination of 1) typical symptoms, 2) laboratory abnormalities and 3) response to treatment. Patients present with episodic symptoms of aberrant mast cell activation, such as abdominal cramping, asthma, hypotensive episodes, tachycardia, anaphylaxis, unexplained arrhythmias, and neurologic/psychiatric symptoms. Both clonal and nonclonal mast cell activation syndromes have been described, with a greater prevalence of non-clonal MCAS among the pediatric and adult population. Numerous extrinsic triggers of mast cell activation (MCA) are described, but recent reports point to nonatopic triggers, as the predominant, extrinsic stimulants of MCA in the adult population. The etiology of MCAS is unclear, though recent studies point to the disruption of the epithelium by infection, toxic exposures or physical trauma, and perturbation the tight regulation of these innate immune cells, associated to the epithelial borders. Here we describe a geriatric patient with adult onset MCAS, following a significant toxic exposure, scombroid poisoning. We also review the relevant literature regarding MCAS diagnosis and management as well as potential mechanisms for this hypersensitivity syndrome in adults.

Primary carnitine deficiency: adult onset lipid storage myopathy with a mild clinical course

2004 ◽  
Vol 11 (8) ◽  
pp. 919-924 ◽  
Author(s):  
S. Vielhaber ◽  
H. Feistner ◽  
J. Weis ◽  
J. Kreuder ◽  
M. Sailer ◽  
...  
Keyword(s):  
Clinical Course ◽  
Carnitine Deficiency ◽  
Lipid Storage ◽  
Adult Onset ◽  
Lipid Storage Myopathy ◽  
Primary Carnitine Deficiency

Racjonalne przesłanki do wyłączenia nerwiakowłókniakowatości z rodziny RASopatii i fakomatoz – podstawy projektu zarządzania chorobą w ramach koordynowanej opieki medycznej

2019 ◽  
Vol 23 (1) ◽  
Author(s):  
Marek W. Karwacki
Keyword(s):  
Rare Diseases ◽  
Clinical Course ◽  
Benign Tumors ◽  
Disease Course ◽  
Small Children ◽  
Monogenic Disorders ◽  
Café Au Lait Spots ◽  
Legius Syndrome ◽  
Risk Of Malignancy ◽  
The Subject

Term neurofibromatoses (NF) comprises three distinct medical entities of different clinical course with overlapping symptomatology and different molecular pathology. NF-1 and its allelic and mosaic forms is one of the most frequent monogenic disorders and together with Legius syndrome belongs to RASopathies. Remaining two, NF-2 and schwannomatosis (NF-3), are ultra-rare diseases and do not belong to RASopathies. Symptomatology, diagnostic and therapeutic requirements as well as complications of NF course are so different from those observed in other RASopathies and phacomatoses, that neurofibromatoses should constitute a separate classification group with distinct program of care. The crucial argument behind this thesis is that NFs are primary neoplasia syndromes, as benign tumors arise in all patients lifelong and a risk of malignancy significantly exceed populational risk in NF patients. Primary diagnostic problems, especially in small children with multiple cafè-au-lait spots required differentiation among almost 80 clinical entities, divers tumors and potential malignancies, varied multiorgan oncological and non-oncological complications of disease course, warrant not only complex multi-specialty consultations and comprehensive supervision, but the coordinated medical care in general. Proofs confirming title’s thesis are the subject of this article.

THU0400 CLINICAL COURSE OF EARLY AXIAL SPONDYLOARTHRITIS OVER TEN YEARS: LONG-TERM RESULTS FROM THE GERMAN SPONDYLOARTHRITIS INCEPTION COHORT

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 437-437
Author(s):  
D. Poddubnyy ◽  
V. Rios Rodriguez ◽  
M. Torgutalp ◽  
M. Verba ◽  
J. Callhoff ◽  
...  
Keyword(s):  
Disease Activity ◽  
Axial Spondyloarthritis ◽  
Clinical Course ◽  
Symptom Duration ◽  
Disease Course ◽  
Inception Cohort ◽  
Research Support ◽  
Low Disease Activity ◽  
Similar Disease

Background:Previous studies showed that patients with non-radiographic and radiographic axial spondyloarthritis (nr- and r-axSpA) have similar disease burden and similar response to anti-inflammatory therapy given similar level of inflammatory activity. Only little is known, however, about long-term disease course in patients with early axSpA.Objectives:To investigate the long-term (up to 10 years) clinical course of patients with early axSpA.Methods:In total, 525 patients with early axSpA (r-axSpA with symptom duration ≤10 years and nr-axSpA with symptom duration ≤5 years) from the German Spondyloarthritis Inception Cohort (GESPIC) were included. The final patient classification was based on central reading results in 458 patients with available pelvic X-rays, and on local rheumatologist judgement in 67 patients. A total of 251 patients were finally classified as r-axSpA and 274 as nr-axSpA. Clinical evaluation, which included disease activity (BASDAI, C-reactive protein – CRP, ASDAS) as well as therapy recording, was performed at baseline and every 6 months thereafter until year 2 and annually thereafter till year 10. Treatment was conducted at the discretion of the local rheumatologist.Results:Since the cohort has started prior to introduction of TNF inhibitors (TNFi), only 2% patients received TNFi at baseline that increased to 23% at year 10 (15% in nr-axSpA and 31% in r-axSpA) – Figure 1. The use of NSAIDs and csDMARDs decreased in both groups (Figure 1), while use of systemic steroids did not change substantially (9% at baseline, 8% at year 10). The proportion of patients with low disease activity according to BASDAI (<4) was higher in r-axSpA as compared to nr-axSpA at almost all time points, while the proportion of patients with low disease activity according to ASDAS (<2.1), as well as with ASDAS inactive disease (<1.3) was similar between nr-axSpA and r-axSpA (Figure 2). In the group of patients who completed year 10 (n=134 in total, 68 with nr-axSpA, 67 with r-axSpA) the same trends in therapy and disease activity were observed.Conclusion:Patients with nr-axSpA and r-axSpA showed a similar disease course in terms of disease activity on the group level. The drop-out rate in this observational cohort was overall high, but comparable between groups. The lower proportion of patients with nr-axSpA being treated with TNFi might reflect a later introduction of TNFi for this indication.Acknowledgments:GESPIC has been financially supported by the German Federal Ministry of Education and Research as well as by Abbott, Amgen, Centocor, Schering–Plough, and Wyeth. From 2010 till 2019 GESPIC has been supported by Abbvie.Disclosure of Interests:Denis Poddubnyy Grant/research support from: AbbVie, MSD, Novartis, and Pfizer, Consultant of: AbbVie, Bristol-Myers Squibb, Eli Lilly, MSD, Novartis, Pfizer, Roche, UCB, Speakers bureau: AbbVie, Bristol-Myers Squibb, Eli Lilly, MSD, Novartis, Pfizer, Roche, UCB, Valeria Rios Rodriguez Consultant of: Abbvie, Novartis, Murat Torgutalp: None declared, Maryna Verba: None declared, Johanna Callhoff: None declared, Mikhail Protopopov Consultant of: Novartis, Fabian Proft Grant/research support from: Novartis Pharma GmbH, Consultant of: Consultancy / speaker fees from: Abbvie, BMS, Celgene, Lilly, MSD, Novartis, Pfizer, Roche, UCB, Speakers bureau: Consultancy / speaker fees from: Abbvie, BMS, Celgene, Lilly, MSD, Novartis, Pfizer, Roche, UCB, Judith Rademacher: None declared, Hildrun Haibel Consultant of: Abbvie, Jansen, MSD, and Novartis, Speakers bureau: Abbvie, Jansen, MSD, and Novartis, Joachim Sieper Consultant of: AbbVie, Boehringer Ingelheim, Eli Lilly and Company, Janssen, Merck, Novartis, Pfizer, Roche, and UCB Pharma, Speakers bureau: AbbVie, Boehringer Ingelheim, Eli Lilly and Company, Janssen, Merck, Novartis, Pfizer, Roche, and UCB Pharma, Martin Rudwaleit Consultant of: AbbVie, BMS, Celgene, Janssen, Eli Lilly, MSD, Novartis, Pfizer, Roche, UCB Pharma

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