Summary: Neuropsychiatrists should be aware of congenital disorders that can present with psychosis, however rarely. Recommends a differential diagnosticapproach based on estimated prevalence of the disorders and their most prominent associated neuropsychiatric features

Benjamin, Sheldon

Lauterbach, Margo D.

Stanislawski-Zygaj, Aimee

English

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University of Massachusetts Medical School eScholarship@UMMS Psychiatry Publications and Presentations Psychiatry 2007-2 The Differential Diagnosis of Congenital Disorders that Include Psychosis Margo D. Lauterbach University of Massachusetts Medical School Et al. Let us know how access to this document benefits you. Follow this and additional works at: https://escholarship.umassmed.edu/psych_pp  Part of the Psychiatry Commons Repository Citation Lauterbach MD, Stanislawski-Zygaj A, Benjamin S. (2007). The Differential Diagnosis of Congenital Disorders that Include Psychosis. Psychiatry Publications and Presentations. Retrieved from https://escholarship.umassmed.edu/psych_pp/477 This material is brought to you by eScholarship@UMMS. It has been accepted for inclusion in Psychiatry Publications and Presentations by an authorized administrator of eScholarship@UMMS. For more information, please contact Lisa.Palmer@umassmed.edu. TABLE ONE: ASSOCIATED SIGNSNEURO SIGNS (Tables 2 & 3) Dermatologic Hepatic/Splenic AbnormalityMental Retardation Dysmorphic features Endocrine AbnormalityDementia Abnormal Body Size Genitourinary AbnormalityMovement Disorder Visual Signs Skeletal/Connective Tissue AbnormalityNeuropathy Hearing Loss Hematologic DisorderSpasticity Speech Abnormality Vascular PathologySeizures Cardiac Abnormality NoneTHE DIFFERENTIAL DIAGNOSIS OF CONGENITAL DISORDERS THAT INCLUDE PSYCHOSIS Margo Lauterbach, MD   Aimee Stanislawski-Zygaj, MDa  Sheldon Benjamin, MD Department of Psychiatry, UMass Medical School, UMass Memorial Healthcare  Worcester, MAaCurrently: VA Western New York; Department of Psychiatry, SUNY Buffalo School of Medicine and Biomedical SciencesBACKGROUND: Neuropsychiatrists are often called upon to evaluate psychotic individuals for possible neurological or neurodevelopmental etiologies after acquired neurological and other medical disorders have been ruled out.   A large number of relatively rare congenital neuropsychiatric conditions that include psychosis have been described. Clear guidance on the neuropsychiatric evaluation and differential diagnosis of these conditions is difﬁcult to ﬁnd in standard textbooks.OBJECTIVE: To address  this  dearth of information we set out to concisely describe the neurodevelopmental disorders in the differential diagnosis of psychosis, their neurodiagnostic and laboratory evaluations, and relative prevalence.CONCLUSION: As consultants frequently called upon to evaluate atypical presentations of psychosis, neuropsychiatrists should be aware of congenital disorders that can present with psychosis, however rarely.  We  recommend a differential diagnostic approach based on estimated prevalence of the disorders and their most prominent associated neuropsychiatric features. RESULTS: We identiﬁed  61 congenital disorders that may present from childhood through middle age and include psychosis. METHODS: A literature search was conducted for disorders that may present with psychosis, utilizing PubMed and Ovid, with search terms including psychosis, metabolic, genetic, congenital and neurodevelopmental disorders.  All disorders described in case reports or case series and literature reviews, including their references, were initially included.    Epidemiological and diagnostic information was gathered via textbooks, OMIM1, GENETests2, and orphanet3. Exclusion Criteria: 1. Acquired (non-heritable/non-congenital)       disorders 2. Fewer than 3 cases reported with psychosis 3. Poorly described psychosisAnalysis:  Disorders were categorized as follows:1. By the presence of one or more of 20 associated signs (Table One)     Disorders having major associated neurological signs are presented   in Tables Two and Three along with principal diagnostic testsDISCUSSION:TABLE TWO: “DOORWAY DIAGNOSES”‡‡ “Doorway Diagnoses” can be recognized by their unique phenotypic features2. By unique phenotypic features (“Doorway Diagnoses”—Table Two)3. By prevalence (> 1/10,000; 1/10,000-1/50,000; <1/50,000)TABLE THREE: DIAGNOSES WITH LESS OBVIOUS PHENOTYPESCODE DIAGNOSIS WORKUPAutism N/AD S Z Cerebrotendinous Xanthomatosis B: · cholestanolKartagener Syndrome T: mucosal biopsyZ Tuberous Sclerosis X: MRI & CT calciﬁed nodulesM Homocysteinuria B/U: · methionine & homocysteineM MR with Psychosis, Pyramidal Signs, and Macroorchidism (PPX-M)G: mutation analysisZ Neurocutaneous Melanosis X: MRI melanin depositsM Z Succinic Semialdehyde Dehydrogenase (SSADH) DeﬁciencyU: · γ-hydroxybutyric acidN Acute Intermittent Porphyria U: · porphobilinogen & δ−aminolevulinic acidAsperger’s NAGilbert Syndrome B: ﬂuctuating · indirect bilirubinGlucose-6-Phosphate Dehydrogenase DeﬁciencyB: RBC G6PD testD M Huntington Disease G: CAG repeatsNeuroﬁbromatosis, Type 1 NAVelo-Cardio-Facial Syndrome G: FISHXXX Karyotype G: XXXD N Z Adrenoleukodystrophy B: · VLCFAN Fabry Disease B: ‚ α-galactosidase AD M N S Metachromatic Leukodystrophy B: ‚ arylsulfatase AN Porphyria Variegata U: · porphobilinogen & δ−aminolevulinic acidD M Wilson Disease B: ‚ ceruloplasmin & · copperXYY Karyotype G: XYYAlbright Hereditary Osteodystrophy B: ‚calcium; · phosphorus & PTH;  Ellsworth-Howard testN Chester Porphyria U: · porphobilinogen & δ−aminolevulinic acidDarier Disease T: skin biopsy D M Z Dentatorubral-Pallidolysian Atrophy (DRPLA)G: CAG repeatsD M Z Fahr Disease X: BG calciﬁcationFamilial Hemiplegic Migraine G: CACNA1A gene mutationGaucher Disease, Type 1 B: ‚ β-glucosidaseM Z Gaucher Disease, Type 3 B: ‚ β-glucosidaseD Gerstmann-Sträussler-Scheinker G: PRNP mutationN Hereditary Coproporphyria U/S: · coproporphyrin D N S Hereditary Spastic Paraparesis G: SPG4 gene mutationD M Z Kuf Disease T: brain, muscle, or skin biopsyD M Late Onset Tay-Sachs B: ‚ hexosaminidase A activityD M Z Mitochondrial Encephalopathy,  Lactic Acidosis, and Stroke-Like Episodes (MELAS)B: · lactate, ‚ pyruvateM Myoclonus-Dystonia G: SGCE gene mutationD M Z Nasu-Hakola X: polycystic osseous lesionsD M Z Neimann-Pick Disease Type C T: skin biopsy (ﬁbroblasts)D M N Z Neuroacanthocytosis B: acanthocytosis; X: MRI caudate nuclei atrophyD M Neurodegeneration with Brain Iron Accumulation (NBIA)X: MRI T2 central pallidal hyperintensity with  hypointense surround (‘eye of the tiger’ sign)D M N Olivopontocerebellar Atrophy X: MRI & CT olivopontocerebellar atrophyD M S Pelizeus-Merzbacher Disease X: MRI white matter diseaseM S Spinocerebellar Degenerations G: CAG repeatsMRNON-MR PREVALENCEMRNON-MRCODE DIAGNOSIS FEATURE WORKUPD Down Syndrome dysmorphic, short G:  trisomy 21Fragile X Syndrome dysmorphic G: CGG repeatsSZ Phenylketonuria blond, blue-eyed, dry skin, musty odor B: · phenylalanineCofﬁn-Lowry Syndrome dysmorphic, short X: XR distal phalangeal tuftingPrader Willi Syndrome dysmorphic, short, obese G: DNA methylation analysisS Laurence-Moon/Biedl-Bardet dysmorphic, short, obese NALujan-Fryns Syndrome dysmorphic, marfanoid NANorrie Disease hearing and vision impairment G: mutation analysisWolfram Syndrome hearing and vision impairment NAKlinefelter Syndrome XXY tall, long arms G:  XXYMarfan Syndrome dysmorphic, marfanoid NAOculocutaneous Albinism hypopigmented skin and hair, blue to yellow-brown iridesG: mutation analysisTurner Syndrome dysmorphic, short, obese, webbed neck G:  XOZ Sturge-Weber Syndrome port-wine stain X: MRI/CT angiomatosis/gyral calciﬁcations (railroad track sign)M Tourette Syndrome motor & vocal tics NAUsher Syndrome hearing and vision impairment O: ERG & ENGWerner Syndrome short, stocky, premature aging, beaked noseNAWORKUP CODESB = BloodworkG = Genetic test/ karyotypeO = OtherS = StoolT = Tissue biopsyU = UrineX = RadiologyCase-report based research such as this is limited by difﬁculty in determining whether a reported re-lationship is coincidental or causal.  The cost of doing an exhaustive laboratory eval-uation of all possible disorders that could result in psychosis would be astronomical.  A coherent neuropsychiatric approach, such as the one pre-sented here, increases cost savings by providing a probability-guided, examination-based approach to focus the workup.Accurate neuropsychiatric diagnosis guides genetic counseling and treatment planning.Studying neuropsychiatric disorders of known eti-ology that include psychosis will ultimately lead to research aimed at understanding the etiology of psychotic symptoms in Axis I disorders.1.2.3.4.44 disorders (72%) have prominent associated neurological features that facilitate differential diagnosis.  17 disorders have readily recognizable unique phenotypes.  44 disorders may present without mental retardation.  52 disorders (85%) have characteristic laboratory features. 52 have known genetic loci and 3 disorders have loci yet unkown.  5 disorders were due to chromosomal nondisjunction.••••••REFERENCES:1.  OMIM (Online Mendelian Inheritance in Man): http://www.ncbi.nlm.nih.gov/entrez/query fcgi?db=OMIM2. GENETests: http://www.genetests.org3. Orphanet: http://www.orpha.netLEGEND>1/10,0001/10,000-1/50,000<1/50,000NEURO CODESD = DementiaM = Movement disorderN = NeuropathyS = SpasticityZ = SeizuresDisorder’s color indicatesits prevalence.

The Differential Diagnosis of Congenital Disorders that Include Psychosis

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The Differential Diagnosis of Congenital Disorders that Include Psychosis

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