Case Report: Improvement Following Immunotherapy in an Individual With Seronegative Down Syndrome Disintegrative Disorder

Down syndrome disintegrative disorder (DSDD) is a condition of unknown etiology characterized by acute cognitive decline, catatonia, insomnia, and autistic features in individuals with Down syndrome. A prior report of four patients with DSDD suggested a potential autoimmune etiology based on the presence of autoantibodies and on successful treatment with immunotherapy that included intravenous immunoglobulin (IVIG). Herein, we present the case of an 8-year old girl who developed acute cognitive decline to a dementia-like state, insomnia, catatonia, and autistic features. In contrast to the four patients with DSDD above, she had no evidence of autoimmunity and presented at a younger age. Given the gravity of her acute deterioration and the exclusion of other etiologies, she was treated with immunotherapy presumptively. She responded with near complete resolution of symptoms, but demonstrated a pattern of mild decline as she approached each monthly dosing of IVIG and steroids, reversed by treatment. Mycophenolate mofetil (MMF) was therefore added, with stability throughout the month and the ability to taper off IVIG. After stopping IVIG, she had a mild recurrence of symptoms that again resolved with repeat IVIG followed by tapering off. Outcome was assessed at 2.5 years after presentation, at which time she was back to her premorbid condition, except for persistent tics off immunotherapy. This case supports the contention that patients with a rapid onset of severe symptoms consistent with DSDD, who have a thorough evaluation with the exclusion of other etiologies, may warrant a trial of immunotherapy with steroids, IVIG and/or other agents like MMF even in the absence of evidence of autoimmunity on standard evaluation.

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Generalized Lichen nitidus associated with Down's syndrome: case report

Anais Brasileiros de Dermatologia ◽

10.1590/s0365-05962012000300018 ◽

2012 ◽

Vol 87 (3) ◽

pp. 466-468 ◽

Cited By ~ 7

Author(s):

Luciane Francisca Fernandes Botelho ◽

João Paulo Junqueira de Magalhães ◽

Marília Marufuji Ogawa ◽

Milvia Maria Silva Simões Enokihara ◽

Silmara da Costa Pereira Cestari

Keyword(s):

Down Syndrome ◽

Case Report ◽

Down's Syndrome ◽

Down’S Syndrome ◽

Unknown Etiology ◽

Upper Limbs

Lichen nitidus is a disease of unknown etiology, characterized by flesh-colored, shiny papules of 1-2 mm and generally asymptomatic or with mild pruritus. The most common sites of occurrence are genitalia, upper limbs, trunk and abdomen. The generalized form is rare. This is the fourth reported case of lichen nitidus associated with Down Syndrome.

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Chronic valproate encephalopathy - an important differential diagnosis of cognitive decline within the scope of a valproate therapy. Case report and literature review

Neuropediatrics ◽

10.1055/s-0032-1307073 ◽

2012 ◽

Vol 43 (02) ◽

Author(s):

H Duckwitz ◽

A Wegener ◽

E Wegjan ◽

S Weise

Keyword(s):

Differential Diagnosis ◽

Case Report ◽

Literature Review ◽

Cognitive Decline ◽

Important Differential Diagnosis

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CASE REPORT: RARE FORM OF HIRSCHPRUNG’S DISEASE

10.35988/sm-hs.2020.118 ◽

2020 ◽

Vol 30 (5) ◽

pp. 82-84

Author(s):

Ilja Skalskis

Keyword(s):

Down Syndrome ◽

Case Report ◽

Clinical Symptoms ◽

Hirschsprung Disease ◽

Distal Colon ◽

Total Colonic Aganglionosis ◽

Sphincter Function ◽

Anal Sphincter Function ◽

History Of ◽

High Index Of Suspicion

Hirschsprung disease (HD) is a developmental disorder characterized by the absence of ganglia in the distal colon, resulting in a functional obstruction. Incidence of total colonic aganglionosis (TCA) is 1 in 500 000 and it accounts for 5-10% of all cases of HD. HD should be suspected in patients with typical clinical symptoms and a high index of suspicion is appropriate for infants with a predisposing condition such as Down Syndrome (DS), or for those with a family history of HD. The treatment of choice for HD is surgical, such as Swenson, Soave, and Duhamel procedures. The goals are to resect the affected segment of the colon, bring the normal ganglionic bowel down close to the anus, and preserve internal anal sphincter function. We present a clinical case report of TCA in a child with Down syndrome (DS) and review of literature.

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Mycophenolate mofetil combined with corticosteroids in treatment of idiopathic retroperitoneal fibrosis:a case report

Academic Journal of Second Military Medical University ◽

10.3724/sp.j.1008.2011.00230 ◽

2011 ◽

Vol 31 (2) ◽

pp. 230-231

Author(s):

Zhen-hua CUI ◽

Ying-shun JIN ◽

Ying-li HONG ◽

Ying CHEN ◽

Can LI

Keyword(s):

Mycophenolate Mofetil ◽

Case Report

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Cerebral venous thrombosis in a patient with Down syndrome and coronavirus disease 2019: a case report

Journal of Medical Case Reports ◽

10.1186/s13256-021-02908-0 ◽

2021 ◽

Vol 15 (1) ◽

Author(s):

Henry Robayo-Amortegui ◽

Natalia Valenzuela-Faccini ◽

Cesar Quecano-Rosas ◽

Darlyng Zabala-Muñoz ◽

Michel Perez-Garzon

Keyword(s):

Risk Factors ◽

Down Syndrome ◽

Case Report ◽

Venous Thrombosis ◽

Cerebral Venous Thrombosis ◽

Epidemiological Data ◽

Thromboembolic Disease ◽

Hispanic Woman ◽

Case Presentation ◽

The World

Abstract Background The new coronavirus disease 2019 pandemic has spread throughout most of the world. Cerebral venous thrombosis is a rare thromboembolic disease that can present as an extrapulmonary complication in coronavirus disease 2019 infection. Case presentation We report the case of a Hispanic woman with Down syndrome who has coronavirus disease 2019 and presents as a complication extensive cerebral venous thrombosis. Conclusions Cerebral venous thrombosis is a rare thromboembolic disease that can present as an extrapulmonary complication in coronavirus disease 2019 infection. In the absence of clinical and epidemiological data, it is important to carry out further investigation of the risk factors and pathophysiological causes related to the development of cerebrovascular thrombotic events in patients with Down syndrome with coronavirus disease 2019 infection.

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Erythromelanosis Follicularis Faciei et Colli: A Case Report in a Caucasian Male and Brief Review of the Literature

Case Reports in Dermatology ◽

10.1159/000511370 ◽

2020 ◽

Vol 12 (3) ◽

pp. 231-235

Author(s):

Carl Maximilian Thielmann ◽

Wiebke Sondermann

Keyword(s):

Case Report ◽

Family History ◽

Clinical Presentation ◽

Rare Condition ◽

Unknown Etiology ◽

Review Of The Literature ◽

Caucasian Male

Erythromelanosis follicularis faciei et colli, a rare condition of unknown etiology, was first described by Kitamura et al. from Japan in 1960. It is characterized by a triad consisting of well-demarcated erythema, hyperpigmentation, and follicular papules. We report the case of a 50-year-old Caucasian male, who had asymptomatic symmetrical facial lesions since the age of 42. His family history was unremarkable. Published erythromelanosis follicularis faciei et colli cases of the last 10 years are summarized in this report to demonstrate the variability and differences in the clinical presentation of this uncommon diagnosis.

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Negative-pressure-related diffuse alveolar hemorrhage after monitored anesthesia care for vertebroplasty: a case report

Journal of Medical Case Reports ◽

10.1186/s13256-021-02697-6 ◽

2021 ◽

Vol 15 (1) ◽

Author(s):

Yumin Jo ◽

Jagyung Hwang ◽

Jieun Lee ◽

Hansol Kang ◽

Boohwi Hong

Keyword(s):

Case Report ◽

Airway Obstruction ◽

Negative Pressure ◽

Diffuse Alveolar Hemorrhage ◽

Alveolar Hemorrhage ◽

Unknown Etiology ◽

Anesthesia Care ◽

Monitored Anesthesia Care ◽

X Ray ◽

Chest X Ray

Abstract Background Diffuse alveolar hemorrhage (DAH) is a rare, life-threatening condition that can present as a spectrum of nonspecific symptoms, ranging from cough, dyspnea, and hemoptysis to severe hypoxemic respiratory failure. Perioperative DAH is frequently caused by negative pressure pulmonary edema resulting from acute airway obstruction, such as laryngospasm, although hemorrhage itself is rare. Case presentation This case report describes an unexpected hemoptysis following monitored anesthesia care for vertebroplasty. A 68-year-old Asian woman, with a compression fracture of the third lumbar vertebra was admitted for vertebroplasty. There were no noticeable events during the procedure. After the procedure, the patient was transferred to the postanesthesia care unit (PACU), at which sudden hemoptysis occurred. The suspected airway obstruction may have developed during transfer or immediate arrive in PACU. In postoperative chest x-ray, newly formed perihilar consolidation observed in both lung fields. The patients was transferred to a tertiary medical institution for further evaluation. She diagnosed with DAH for hemoptysis, new pulmonary infiltrates on chest x-ray and anemia. The patient received supportive care and discharged without further events. Conclusions Short duration of airway obstruction may cause DAH, it should be considered in the differential diagnosis of postoperative hemoptysis of unknown etiology.

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Refractory eosinophilic fasciitis successfully treated with infliximab: A case report

Journal of Scleroderma and Related Disorders ◽

10.1177/23971983211004399 ◽

2021 ◽

pp. 239719832110043

Author(s):

Paulina Śmigielska ◽

Justyna Czarny ◽

Jacek Kowalski ◽

Aleksandra Wilkowska ◽

Roman J. Nowicki

Keyword(s):

Case Report ◽

Connective Tissue ◽

Treatment Failure ◽

Immunosuppressive Drugs ◽

Unknown Etiology ◽

High Dose ◽

Eosinophilic Fasciitis ◽

Line Treatment ◽

First Line ◽

First Line Treatment

Eosinophilic fasciitis is a rare connective tissue disease of unknown etiology. Therapeutic options include high-dose corticosteroids and other immunosuppressive drugs. We present a typical eosinophilic fasciitis case, which did not respond to first-line treatment, but improved remarkably after infliximab administration. This report demonstrates that in case of initial treatment failure, infliximab might be a relatively safe and effective way of eosinophilic fasciitis management.

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Scrotal hematoma as a sign of adrenal hemorrhage in newborns

Sao Paulo Medical Journal ◽

10.1590/s1516-31802011000200011 ◽

2011 ◽

Vol 129 (2) ◽

pp. 113-115 ◽

Cited By ~ 7

Author(s):

Renata Gonçalves ◽

Allan Abuabara ◽

Rubia Fatima Fuzza Abuabara ◽

Claudia Aparecida Feron

Keyword(s):

Case Report ◽

Inguinal Hernia ◽

Conservative Treatment ◽

Complete Resolution ◽

Testicular Tumor ◽

Adrenal Hemorrhage ◽

Meconium Peritonitis ◽

Scrotal Hematoma ◽

Bluish Discoloration

CONTEXT: Bluish discoloration and swelling of the scrotum in newborns can arise from a number of diseases, including torsion of the testes, orchitis, scrotal or testicular edema, hydrocele, inguinal hernia, meconium peritonitis, hematocele, testicular tumor and traumatic hematoma. Forty-two cases of scrotal abnormalities as signs of neonatal adrenal hemorrhage were found in the literature. CASE REPORT: We present a case of scrotal hematoma due to adrenal hemorrhage in a newborn. Conservative treatment with clinical follow-up was adopted, with complete resolution within 10 days. The possible differential diagnoses are reviewed and discussed.

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