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Tics as an initial manifestation of juvenile Huntington's disease: case report and literature review.

ABSTRACT: Huntington's disease (HD) is an autosomal dominant disorder, typically characterized by chorea due to a trinucleotide repeat expansion in the HTT gene, although the clinical manifestations of patients with juvenile HD (JHD) are atypical.A 17-year-old boy with initial presentation of tics attended our clinic and his DNA analysis demonstrated mutation in the HTT gene (49 CAG repeats). After treatment, his symptoms improved. Furthermore, we performed literature review through searching the databases and summarized clinical features in 33 JHD patients.The most prevalent symptoms are ataxia, and two cases reported that tics as initial and prominent manifestation in JHD. Among them, 88% patients carried CAG repeats beyond 60 and most of them have family history. This case here illustrates the variable range of clinical symptoms of JHD and the necessity of testing for the HD mutation in young patients with tics with symptoms unable to be explained by Tourette's syndrome (TS).

SUBMITTER: Cui SS

PROVIDER: S-EPMC5549341 | biostudies-other | 2017 Aug

REPOSITORIES: biostudies-other

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Project description:BACKGROUND:Huntington's disease is a rare, autosomal dominant neurodegenerative disease characterized by motor, cognitive, and psychiatric symptoms. Usually, the disease symptoms first appear around the age of 40, but in 5-10% of cases, they manifest before the age of 21. This is then referred to as juvenile Huntington's disease. According to the small number of cases reported in the literature, the course of juvenile Huntington's disease significantly differs from adult onset and shows significant interpatient variability, making every case unique. CASE PRESENTATION:Our study aims to highlight the complexity and diversity of rare juvenile Huntington's disease. We report cases of two Caucasian patients with chronic tics referred to the Huntington's Disease Competence Center of Vilnius University Hospital Santaros Klinikos with suspicion of juvenile Huntington's disease due to the appearance of chronic motor tics, and behavior problems. The diagnosis of juvenile Huntington's disease was confirmed on both clinical and genetic grounds. In both cases described, the patients developed symptoms in all three main groups: motor, cognitive, and psychiatric. However, the first patient was experiencing more severe psychiatric symptoms; in the second case, motor symptoms (rigidity, tremor) were more prominent. In both cases, apathy was one of the first symptoms and affected patients' motivation to participate in treatment actively. These two case descriptions serve as an important message for clinicians seeing patients with chronic tics and gradually worsening mood and behavior, indicating the need to investigate them for rare genetic disorders. CONCLUSIONS:Description of these two clinical cases of juvenile Huntington's disease provides insight into how differently it manifests and progresses in young patients and the difficulties the patients and their families face. There were different but painful ways for families to accept the diagnosis. Because the disease inevitably affects the patient's closest ones, it is crucial to also provide adequate psychological and social support to all the family members. Establishment of multidisciplinary specialist centers for Huntington's disease, as demonstrated by our experience, not only allows timely diagnosis and treatment plans but also ensures thorough disease management and care for patients and systematic support for their families.

Project description:BACKGROUND:Granulomatosis with polyangiitis (GPA), a necrotizing granulomatous disease, very rarely involves the central nervous system (CNS), particularly the pituitary. Delayed treatment may cause permanent bilateral blindness. We report an isolated case of pituitary GPA that manifested as a progressive bilateral temporal visual field (VF) defect and was diagnosed via pituitary biopsy. Additionally, we review ocular, chiasmal and cranial nerve involvement in pituitary GPA. CASE PRESENTATION:A 20-year-old Chinese man was referred for repeated fever, sudden headache, diplopia with a bilateral best-corrected visual acuity (BCVA) of 10/20, ptosis in both eyes and restricted abduction on the right side. VF tests showed bitemporal hemianopsia. Laboratory tests revealed hypothyroidism and were negative for autoimmune markers. Enhanced magnetic resonance imaging (MRI) showed pituitary enlargement. The diagnosis was lymphocytic pituitaritis. After intravenous (IV) dexamethasone treatment, full recovery occurred within 2 months. Two years later, the patient was readmitted for headache recurrence. With oral prednisone, the visual acuity in his right eye rapidly decreased to hand motion (HM) within one month. Enhanced MRI showed pituitary enlargement and a new, invasive suprasellar CNS lesion. All infection- and autoimmune-related tests were negative. The visual acuity in his right and left eye decreased to no light perception (NLP) after 6 days and 2 weeks, respectively. The biopsy results suggested GPA. After IV methylprednisolone treatment, complete remission of the symptoms occurred and was confirmed by MRI. The 15-month follow-up showed no signs of recurrence. CONCLUSION:GPA typically affects the respiratory tract, lungs and kidneys. To date, 50 cases with pituitary involvement have been reported. Chiasmal and cranial nerve involvement leading to visual acuity impairment are common. We found 2 cases with severe visual loss resembling our case and discuss certain similarities.

Project description:IntroductionThe neuroendocrine differentiation in prostate cancer is a rare entity that may occur as de novo, or as a result of treatment with androgen deprivation. It is characterized by its rapid progression and poor prognosis, without elevation of the prostate specific antigen (PSA), which is why it is often diagnosed by biopsy of a site of metastasis; there are no established treatment regimens. In this case, metastasis was presented as implantation to a laparoscopic port. These implantations subsequent to laparoscopic procedures in prostate cancer are very rare, with an incidence between 0.09 and 0.7%. The exact pathogenesis of the tumor implantation at the insertion site is not clear, there are several theories.Materials and methodsWe describe the case of a 53-year-old patient with a diagnosis of prostate adenocarcinoma who underwent laparoscopic radical prostatectomy plus lymphadenectomy, staged as PT3BN0 (0/6) M0R1 Gleason 4 + 5. The patient never had negative PSA levels after the treatment, and presented elevation of the same, so radiotherapy was performed at a dose of 66 Gy plus antiandrogen deprivation therapy with leuprolide acetate for 30 months, with a decrease in PSA to 0.011 ng/ml, which remained stable. After 3 months of hormonal therapy, he presented with an umbilical mass on the scar of the laparoscopic port; ultrasound and computed tomography were performed, showing a solid mass dependent of the umbilical upper edge with a defect in the abdominal wall of 3 cm, as well as hepatic nodules suggestive of metastatic lesions and peritoneal implantations.ResultsA biopsy of the abdominal wall lesion was performed, documenting poorly differentiated carcinoma with an immune-profile consistent with neuroendocrine carcinoma; immunohistochemistry showed strong and diffuse positivity with cytokeratin cocktail and chromogranin. In conjunction with oncology, treatment with chemotherapy was decided. He received six cycles of cisplatin and etoposide, with progression of his disease and death seven months after diagnosis.ConclusionsProstate cancer with neuroendocrine differentiation is a rare entity, usually occurring in the castration resistance stage, with poor prognosis and survival of less than 1 year. It presents as clinical and radiological progression without elevation of the PSA. Although it is very rare, the possible causes include tumor implantation in laparoscopic ports and/or open surgery scars, so caution and certain precautions must be taken when performing radical prostatectomy. In case of suspecting a tumor with neuroendocrine differentiation, biopsy and immunohistochemistry studies should be performed in order to clarify the diagnosis and provide a multimodal treatment based on surgery, radiotherapy and chemotherapy.

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Tics as an initial manifestation of juvenile Huntington's disease: case report and literature review.

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