RESUMO
BACKGROUND: Wilson disease (WD) is an autosomal recessive disorder caused by homozygous or compound heterozygous mutations in ATP7B. Clinical manifestations primarily involve liver and nervous system lesions, with rarely observed hematologic manifestations. CASE PRESENTATION: In the present case, a patient with WD presented with thrombocytopenia, giant platelets, and Döhle-like cytoplasmic inclusions in the leukocytes. Initially, the May-Hegglin anomaly was considered; however, whole-exome sequencing did not reveal any mutation in the MYH9 gene but a heterozygous mutation was found in (C.2804 C > T, p.T935M) in the ATP7B gene. After two years, the patient developed tremors in his hands, lower limb stiffness, and foreign body sensation in the eyes. Additionally, Kayser-Fleischer rings in the corneal limbus were detected by slit-lamp examination. Copper metabolism test indicated a slight decrease in serum ceruloplasmin. Transmission electron microscopy revealed that the inclusion bodies of leukocytes were swollen mitochondria. Mass spectrometry analysis showed that the copper levels were almost 20-fold higher in the leukocytes of the patient than in those of the control group. Based on the Leipzig scoring system, a diagnosis of WD was confirmed. Zinc sulfate treatment ameliorated the patient's symptoms and enhanced platelet, serum ceruloplasmin, and albumin levels. CONCLUSIONS: In conclusion, this case represents the first documented instance of WD presenting as thrombocytopenia, giant platelets, and Döhle-like cytoplasmic inclusions in the leukocytes. Excessive cellular copper accumulation likely underlies these findings; however, understanding precise mechanisms warrants further investigation.
Assuntos
Degeneração Hepatolenticular , Corpos de Inclusão , Leucócitos , Trombocitopenia , Humanos , ATPases Transportadoras de Cobre/genética , ATPases Transportadoras de Cobre/metabolismo , Degeneração Hepatolenticular/patologia , Degeneração Hepatolenticular/genética , Degeneração Hepatolenticular/complicações , Corpos de Inclusão/patologia , Corpos de Inclusão/metabolismo , Leucócitos/patologia , Leucócitos/metabolismo , Mutação , Trombocitopenia/patologiaRESUMO
A female adolescent presented with a 9 month history of progressive involuntary movements, initially manifesting as finger tremors and evolving into flinging motions of the extremities, resulting in an inability to walk over the last 4 months. Concurrently, she developed dysarthria. Neurologically, she exhibited normal power, rigidity and brisk deep tendon reflexes, with a downgoing plantar reflex. Contrast-enhanced MRI revealed hyperintensity in bilateral caudate lobes, basal ganglia and pons, indicative of Wilson's disease. Liver function tests and ultrasound were normal while Kayser-Fleischer rings were confirmed by slit lamp examination. Serum ceruloplasmin was low, 24-hour urine copper was elevated (125.5 mcg) and whole exome sequencing identified a heterozygous ATP7B mutation, confirming the diagnosis. Isolated neurological involvement without hepatic involvement is an extremely rare presentation and needs clinical expertise to delineate Wilson's disease as a possible aetiology.
Assuntos
ATPases Transportadoras de Cobre , Degeneração Hepatolenticular , Imageamento por Ressonância Magnética , Humanos , Degeneração Hepatolenticular/diagnóstico , Degeneração Hepatolenticular/complicações , Feminino , Adolescente , ATPases Transportadoras de Cobre/genética , Cobre/urina , Mutação , CeruloplasminaRESUMO
BACKGROUND AND AIMS: Many children with Wilson's disease are complicated with dyslipidemia. The aim of this study was to investigate the risk factors for the development of fatty liver disease (FLD) in children with Wilson's disease. METHODS: We evaluated sex, age, weight, the disease course, treatment course, clinical classification, alanine transaminase (ALT), aspartate transaminase, γ-glutamyl transpeptidase, total biliary acid, triglyceride, total cholesterol, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, homocysteine, uric acid, fibrinogen (FBG), creatinine, procollagen III N-terminal propeptide, laminin, hyaluronic acid, type IV collagen, and performed receiver operating characteristic curve analysis to investigate the forecast value of individual biochemical predictors and combined predictive indicators to evaluate FLD in Wilson's disease. RESULTS: The multivariate logistic regression analysis revealed that ALT [odds ratio (OR), 1.011; 95% confidence interval (CI), 1.004-1.02; P â =â 0.006], uric acid (OR, 1.01; 95% CI, 1.002-1.018; P â =â 0.017), FBG (OR, 3.668; 95% CI, 1.145-13.71; P â =â 0.037), creatinine (OR, 0.872; 95% CI, 0.81-0.925; P â <â 0.001), and laminin (OR, 1.01; 95% CI, 1.002-1.018; P â =â 0.017) acted as independent risk factors in Wilson's disease complicated with FLD. The receiver operating characteristic curves for combined predictive indicators demonstrated an area under the curve values of 0.872, which was found to be a significant predictors for FLD in Wilson's disease. CONCLUSIONS: We screened out the most important risk factors, namely ALT, uric acid, creatinine, FBG, and laminin for Wilson's disease complicated with FLD. The joint prediction achieved is crucial for identifying children with Wilson's disease complicated with FLD.
Assuntos
Biomarcadores , Degeneração Hepatolenticular , Curva ROC , Humanos , Degeneração Hepatolenticular/complicações , Degeneração Hepatolenticular/sangue , Degeneração Hepatolenticular/diagnóstico , Masculino , Feminino , Fatores de Risco , Criança , Adolescente , Biomarcadores/sangue , Ácido Úrico/sangue , Alanina Transaminase/sangue , Creatinina/sangue , Medição de Risco , Laminina/sangue , Valor Preditivo dos Testes , Estudos Retrospectivos , Pré-EscolarRESUMO
Wilson's disease is a rare autosomal recessive disorder. Due to a defect in membrane copper transporter, copper is not excreted in the bile and accumulates in the tissues. The only treatment for acute liver failure in Wilson's disease is a liver transplant. AIM: Assessment of the course of pregnancies and comparison of obstetric outcomes in female liver transplant recipients in the course of Wilson's disease. METHODOLOGY: Retrospective analysis of data of women, who were pregnant and gave birth in the years: 2017 to 2023. Evaluation of their liver function used pharmacotherapy and obstetric outcomes. RESULTS: We recorded 11 pregnancies in liver transplantation recipients due to Wilson's disease. Ten single pregnancies and 1 twin (DCDA) were observed. In all pregnancies, graft functions and immunosuppressive drug concentrations were monitored. Three women suffered from epilepsy, one was diagnosed with psychiatric disorder. Two were diagnosed with cholestasis, and another 2 with gestational diabetes. Two of them were treated for pregnancy-induced hypertension and 2 developed preeclampsia. Deterioration of liver function parameters in pregnancy was observed in 2 cases. In total, 8 full-term babies were born and 4 late-preterm, including twins at 35 weeks of gestation. Seven pregnancies were delivered by caesarean section and 4 delivered vaginally. No complications in early postpartum period have been reported. CONCLUSIONS: Women with Wilson's disease treated with organ transplantation have a chance of successful pregnancies and deliveries.
Assuntos
Degeneração Hepatolenticular , Transplante de Fígado , Complicações na Gravidez , Humanos , Feminino , Degeneração Hepatolenticular/cirurgia , Degeneração Hepatolenticular/complicações , Gravidez , Estudos Retrospectivos , Adulto , Resultado da Gravidez , Adulto JovemRESUMO
Deterioration of kidney function after orthotopic liver transplantation is a common complication that may occur after perioperative acute kidney injury (AKI) and preexisting or developing chronic kidney disease (CKD). AKI is described in the early postoperative period in more than half of recipients, whereas the main cause of CKD is pharmacotherapy. When end-stage renal failure occurs, patients may be qualified for additional transplantations. We present a rare case of a 27-year-old woman who, as a teenager, underwent 2 liver transplantations due to Wilson's disease. Surgeries were complicated by systemic infection and multiple organ failure. The kidneys did not regain their function, and therefore, after 6 months of dialysis, the organ was transplanted. Three organ transplantations were performed. Due to the patient's willingness and good graft functions, the patient started trying to conceive. Three months before successful conception, immunosuppressive therapy was changed to tacrolimus and azathioprine. Pregnancy was complicated by pregnancy-induced hypertension, and its course was closely monitored. Organ functions and immunosuppressive therapy were regularly assessed. Due to the pre-eclampsia developed in the 35th week of gestation, a Cesarean delivery was performed, and she gave birth to a daughter weighing 2350 g (Apgar 7-7-8). The patient decided to breastfeed. There were no obstetric complications or graft function deterioration in the early postpartum period. Mother and daughter left home after 7 days of hospitalization. The presented clinical situation proves that multiorgan transplantation recipients can have a successful pregnancy without impairing graft functions. Therefore, the pregnancy requires adequate preparation and increased care.
Assuntos
Imunossupressores , Transplante de Rim , Transplante de Fígado , Humanos , Feminino , Adulto , Gravidez , Imunossupressores/uso terapêutico , Complicações na Gravidez , Degeneração Hepatolenticular/cirurgia , Degeneração Hepatolenticular/complicações , Injúria Renal Aguda/etiologia , Falência Renal Crônica/cirurgiaRESUMO
BACKGROUND AND AIMS: Wilson's disease may progress to cirrhosis and clinically significant portal hypertension (CSPH). We aimed to assess the prevalence and prognostic impact of CSPH-related features on hepatic decompensation and transplant-free survival in patients with Wilson's disease. METHODS AND RESULTS: About 137 patients with Wilson's disease (Leipzig score ≥4), followed for a median observation period of 9.0 (3.9-17.7) years at the Vienna General Hospital, were included in this retrospective study. Overall, 49 (35.8%) developed features of CSPH: 14 (10.2%) varices, 40 (29.2%) splenomegaly, 20 (14.6%) ascites, 18 (13.1%) hepatic encephalopathy and 3 (2.2%) experienced acute variceal bleeding. Overall, 8 (5.8%) patients died, including three deaths caused by CSPH-related complications. Within 10 years, compensated patients with features of CSPH developed more decompensation events (8.3% vs. 1.5% in patients without CSPH, p = 0.3) and had worse transplant-free-survival (91.7% vs. 98.6%), which further declined in patients with hepatic decompensation (26.7%, log-rank: p < 0.0001). Patients with liver stiffness <15 kPa and normal platelets (≥150 G/L) were less likely to decompensate within 10 years (2.6% vs. 8.4%, p = 0.002) and had a better 10-year transplant-free-survival (97.7% vs. 83.9%, p = 0.006). CONCLUSIONS: Patients with Wilson's disease developing features of CSPH are at an increased risk for hepatic decompensation and liver-related mortality, warranting for regular screening and timely initiation of effective CSPH-directed treatments.
Assuntos
Degeneração Hepatolenticular , Hipertensão Portal , Humanos , Hipertensão Portal/etiologia , Hipertensão Portal/complicações , Hipertensão Portal/mortalidade , Degeneração Hepatolenticular/mortalidade , Degeneração Hepatolenticular/complicações , Degeneração Hepatolenticular/fisiopatologia , Masculino , Feminino , Estudos Retrospectivos , Prognóstico , Adulto , Adolescente , Adulto Jovem , Cirrose Hepática/complicações , Cirrose Hepática/mortalidade , Varizes Esofágicas e Gástricas/etiologia , Criança , Pessoa de Meia-Idade , Hemorragia Gastrointestinal/etiologia , Encefalopatia Hepática/etiologia , Áustria/epidemiologia , Progressão da Doença , Transplante de FígadoRESUMO
BACKGROUND: The clinical profile varies in patients with Wilson's disease (WD). There is paucity of data regarding adult and pediatric patients with hepatic WD. METHODS: As many as 140 consecutive patients diagnosed with hepatic WD between December 2006 and January 2021 were included in the study. Data was collected regarding the demographic parameters, clinical presentation, extrahepatic organ involvement, liver histology and laboratory investigations. Adult and children (0-14 years) with hepatic WD were compared regarding these features. RESULT: Eighty-eight adults and 52 children were included in the study. The median age of presentation was 17 years (range: 1.1-42 years). Male preponderance was seen (adult 68/88, 69%; children 40/52, 77%). Adults as compared to children presented more commonly as cirrhosis (52/88 vs. 15/52, p = 0.0005) and with hepatic decompensation (35/88 vs. 9/52, p = 0.005). Presentation with acute-on-chronic liver failure (ACLF) was more common in children (10/52 vs. 2/88, p = 0.0005). Twenty-eight-day mortality was 50% (5/10) in children and none in adults presenting with ACLF. Nazer's Prognostic Index (≥ 7) and New Wilson Index were more accurate in predicting mortality among children with ACLF with AUROC 1, while AARC (APASL ACLF Research Consortium) was less accurate with AUROC 0.45. Liver histology findings were similar in adults and children. Extrahepatic involvement was also similar. (8/88 in adults vs. 3/52 children, p value 0.48). CONCLUSION: Most patients with WD present as cirrhosis in adulthood. ACLF is more common in children. Nazer's prognostic index and new Wilson Index score are accurate in predicting mortality in children with ACLF.
Assuntos
Degeneração Hepatolenticular , Humanos , Degeneração Hepatolenticular/complicações , Degeneração Hepatolenticular/mortalidade , Degeneração Hepatolenticular/diagnóstico , Masculino , Adolescente , Criança , Feminino , Adulto , Pré-Escolar , Adulto Jovem , Lactente , Prognóstico , Fatores Etários , Cirrose Hepática/complicações , Cirrose Hepática/etiologia , Cirrose Hepática/mortalidade , Fígado/patologia , Insuficiência Hepática Crônica Agudizada/etiologia , Insuficiência Hepática Crônica Agudizada/mortalidade , Insuficiência Hepática Crônica Agudizada/diagnósticoRESUMO
BACKGROUND AND OBJECTIVES: Acute liver failure (ALF) is an uncommon but potentially dramatic syndrome characterized by massive hepatic necrosis and has a very high mortality rate of 50% to 75% without liver transplantation. This study is aimed at analyzing the etiological spectrum of ALF patients and compare these with ALF mimics such as malaria, dengue fever and other tropical infectious diseases. METHODS: The study population included patients who presented with ALF and ALF mimics in a tertiary care center over two years. We retrospectively analyzed the patient case files and a comparison was made concerning the baseline demographic details, clinical profile, laboratory values and outcomes. RESULTS: Sixty-three patients were assessed, with 32 in ALF and 31 in ALF mimics group. The most common cause for ALF was hepatitis A virus (25%), followed by hepatitis B virus (18.7%), drug-induced liver injury (12.7%), autoimmune hepatitis (12.5%), hepatitis E virus (9.3%) and Wilson's disease (6.25%). In the ALF mimics group, malaria (58.06%) was the most common cause, followed by dengue fever (16.1%), leptospirosis (12.9%) and scrub typhus (12.9%). Patients in the ALF mimics group had significantly higher incidence of fever (p = 0.001), hepatosplenomegaly (p = 0.01), anemia (p = 0.02) and shorter jaundice to encephalopathy duration (p = 0.032) as compared to the ALF group, while higher transaminase levels (p = 0.03), bilirubin (p = 0.01), prothrombin time (p = 0.01), serum ammonia (p = 0.02) and mortality (p = 0.02) were observed in ALF patients. CONCLUSIONS: The most common cause for ALF was hepatitis A virus, followed by hepatitis B virus, while in ALF mimics it was malaria followed by dengue fever, in our study. Patients of ALF mimics can have similar presentation, but a high index of suspicion and awareness is required to identify the common infectious ALF mimics for early diagnosis.
Assuntos
Dengue , Falência Hepática Aguda , Malária , Humanos , Falência Hepática Aguda/etiologia , Estudos Retrospectivos , Feminino , Masculino , Adulto , Malária/complicações , Diagnóstico Diferencial , Pessoa de Meia-Idade , Dengue/complicações , Dengue/diagnóstico , Hepatite A/complicações , Hepatite A/diagnóstico , Hepatite B/complicações , Hepatite Autoimune/complicações , Degeneração Hepatolenticular/complicações , Degeneração Hepatolenticular/diagnóstico , Hepatite E/complicações , Adulto Jovem , AdolescenteRESUMO
BACKGROUND: Systemic lupus erythematosus (SLE) and Wilson's disease (WD) are both systemic diseases that can affect multiple organs in the body. The coexistence of SLE and WD is rarely encountered in clinical practice, making it challenging to diagnose. CASE REPORT: We present the case of a 9-year-old girl who initially presented with proteinuria, haematuria, pancytopenia, hypocomplementemia, and positivity for multiple autoantibodies. She was diagnosed with SLE, and her blood biochemistry showed elevated liver enzymes at the time of diagnosis. Despite effective control of her symptoms, her liver enzymes remained elevated during regular follow-up. Laboratory tests revealed decreased serum copper and ceruloplasmin levels, along with elevated urinary copper. Liver biopsy revealed chronic active hepatitis, moderate inflammation, moderate-severe fibrosis, and a trend towards local cirrhosis. Genetic sequencing revealed compound heterozygous mutations in the ATP7B gene, confirming the diagnosis of SLE with WD. The girl received treatment with a high-zinc/low-copper diet, but her liver function did not improve. Upon recommendation following multidisciplinary consultation, she underwent liver transplantation. Unfortunately, she passed away on the fourth day after the surgery. CONCLUSIONS: SLE and WD are diseases that involve multiple systems and organs in the body, and SLE complicated with WD is rarely encountered in the clinic; therefore, it is easy to misdiagnose. Because penicillamine can induce lupus, it is not recommended. Liver transplantation is indicated for patients with liver disease who do not respond to medical treatment with WD. However, further research is needed to determine the optimal timing of liver transplantation for patients with SLE complicated with WD.
Assuntos
Degeneração Hepatolenticular , Lúpus Eritematoso Sistêmico , Criança , Feminino , Humanos , Ceruloplasmina/metabolismo , Ceruloplasmina/uso terapêutico , Cobre/urina , Degeneração Hepatolenticular/complicações , Degeneração Hepatolenticular/diagnóstico , Degeneração Hepatolenticular/tratamento farmacológico , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/diagnóstico , Penicilamina/uso terapêuticoRESUMO
BACKGROUND: Wilson's disease (WD) often leads to liver fibrosis and cirrhosis, and early diagnosis of WD cirrhosis is essential. Currently, there are few non-invasive prediction models for WD cirrhosis. The purpose of this study is to non-invasively predict the occurrence risk of compensated WD cirrhosis based on ultrasound imaging features and clinical characteristics. METHODS: A retrospective analysis of the clinical characteristics and ultrasound examination data of 102 WD patients from November 2018 to November 2020 was conducted. According to the staging system for WD liver involvement, the patients were divided into a cirrhosis group (n = 43) and a non-cirrhosis group (n = 59). Multivariable logistic regression analysis was used to identify independent influencing factors for WD cirrhosis. A nomogram for predicting WD cirrhosis was constructed using R analysis software, and validation of the model's discrimination, calibration, and clinical applicability was completed. Due to the low incidence of WD and the small sample size, bootstrap internal sampling with 500 iterations was adopted for validation to prevent overfitting of the model. RESULTS: Acoustic Radiation Force Impulse (ARFI), portal vein diameter (PVD), and serum albumin (ALB) are independent factors affecting WD cirrhosis. A nomogram for WD cirrhosis was constructed based on these factors. The area under the ROC curve (AUC) of the model's predictive ability is 0.927 (95% CI: 0.88-0.978). As demonstrated by 500 Bootstrap internal sampling validations, the model has high discrimination and calibration. Clinical decision curve analysis shows that the model has high clinical practical value. ROC curve analysis of the model's rationality indicates that the model's AUC is greater than the AUC of using ALB, ARFI, and PVD alone. CONCLUSION: The nomogram model constructed based on ARFI, PVD, and ALB can serve as a non-invasive tool to effectively predict the risk of developing WD cirrhosis.
Assuntos
Degeneração Hepatolenticular , Humanos , Degeneração Hepatolenticular/diagnóstico por imagem , Degeneração Hepatolenticular/complicações , Nomogramas , Estudos Retrospectivos , Cirrose Hepática/diagnóstico por imagem , Curva ROCRESUMO
BACKGROUND: Wilson's disease (WD) is frequently manifested with anxiety, depression and sleep disturbance; this investigation aimed to elucidate these manifestations and identify the influencing factors of sleep disturbance. METHODS: Sleep disturbance, anxiety and depression were compared in 42 WD and 40 age- and gender-matched healthy individuals. 27 individuals indicated a neurological form of the disease (NV), and 15 had a non-neurological variant (NNV). RESULTS: This investigation revealed that the Parkinson's disease sleep scale (PDSS) score of WD individuals was lower, whereas their Epworth Sleepiness Scale (ESS), Pittsburgh sleep quality index (PSQI), Hamilton Anxiety Scale (HAMA), and Hamilton Depression Scale (HAMD) scores were higher than the healthy individuals (p < 0.05). Furthermore, the WD subjects had markedly increased prevalence of poor sleep quality, anxiety, and depression than healthy individuals (p < 0.05). Subgroup analysis showed that NV subjects had significantly higher scores on the UWDRS, PSQI, HAMA, and HAMD scales than those in the NV group, as well as higher rates of EDS, anxiety, and depression (p < 0.05). In patients with sleep disturbance, we identified UWDRS, neurological variant, and depression as associated factors. The linear regression model demonstrated depression as the dominant risk factor. CONCLUSIONS: Depression is highly correlated with and is a determinant of sleep disturbance in WD patients.
Assuntos
Degeneração Hepatolenticular , Transtornos do Sono-Vigília , Humanos , Degeneração Hepatolenticular/complicações , Transtornos do Sono-Vigília/complicações , Transtornos do Sono-Vigília/diagnóstico , Ansiedade/complicações , Ansiedade/epidemiologia , Transtornos de Ansiedade/complicações , SonoRESUMO
OBJECTIVE: Wilson's disease (WD) is a metabolic disorder associated with abnormal copper metabolism that results in hepatic, psychiatric, and neurologic symptoms. No investigation of taste function has been made in patients with WD, although olfactory dysfunction has been evaluated. METHODS: Quantitative taste and smell test scores of 29 WD patients were compared to those of 790 healthy controls. Taste was measured using the 53-item Waterless Empirical Taste Test (WETT®) and smell using the 40-item revised University of Pennsylvania Smell Identification Test (R-UPSIT®). Multiple linear regression analysis controlled for age and sex. RESULTS: Average WETT® scores did not differ meaningfully between WD and control subjects (respective medians & IQRs = 32 [28-42] & 34 [27-41]); linear regression coefficient = 1.19, 95% CI [-0.81, 3.19], p = 0.242). In contrast, WD was associated with significantly reduced olfactory function [respective median (IQR) R-UPSIT® scores = 35 (33-37) vs. 37 (35-38); adjusted linear regression coefficient = -1.59, 95% CI [-2.34, -0.833]; p < 0.001)]. Neither olfaction nor taste were influenced by WD symptom subtype [23 (79.3%) were hepatic-predominant; 6 (20.7%) neurologic predominant]; R-UPSIT®, p = 0.774; WETT®, p = 0.912). No effects of primary medication or years since diagnosis (R-UPSIT®, p = 0.147; WETT®, p = 0.935) were found. Weak correlations were present between R-UPSIT® and WETT® scores for both control (r=0.187, p < 0.0001) and WD (r=0.237) subjects, although the latter correlation did not reach the 0.05 α level (p = 0.084). CONCLUSION: Although WD negatively impacts smell function, taste is spared. Research is needed to understand the pathophysiologic mechanisms responsible for this divergence.
Assuntos
Degeneração Hepatolenticular , Transtornos do Olfato , Humanos , Olfato/fisiologia , Degeneração Hepatolenticular/complicações , Degeneração Hepatolenticular/diagnóstico , Paladar , Cobre , Transtornos do Olfato/diagnóstico , Transtornos do Olfato/etiologiaRESUMO
RATIONALE: Wilson disease is a rare genetic disorder primarily associated with hepatic symptoms; however, its unique neurological presentation remains a subject of interest in the medical literature. This case report contributes to existing knowledge by highlighting the unusual manifestation of Wilson disease with significant neurological symptoms. PATIENT CONCERNS: The patient, pseudonym John Smith, presented with prominent neurological symptoms, including tremors, dystonia, and psychiatric manifestations. Clinical findings corroborated copper accumulation in the brain, prompting a thorough diagnostic investigation. DIAGNOSES: Genetic analysis revealed two ATP7B mutations, confirming the primary diagnosis of Wilson disease. This case underscores the importance of recognizing atypical neurological presentations in the context of this rare genetic disorder. INTERVENTIONS: Chelation therapy, initiated promptly upon diagnosis, targeted copper overload. The intervention led to notable improvements in neurological symptoms and psychiatric manifestations. The dosage and duration of treatment were adjusted based on regular monitoring. OUTCOMES: Regular follow-up revealed a positive trajectory, with reduced tremors and improved overall well-being. Genetic testing, coupled with clinical assessments, contributed to monitoring treatment efficacy and optimizing therapeutic interventions. LESSONS: The main takeaway lessons from this case include the significance of a comprehensive diagnostic approach, personalized therapeutic interventions, and the imperative to acknowledge the diverse clinical spectrum of Wilson disease. Early recognition and tailored treatment contribute to favorable outcomes in cases with atypical neurological presentations.
Assuntos
Degeneração Hepatolenticular , Humanos , Degeneração Hepatolenticular/complicações , Degeneração Hepatolenticular/diagnóstico , Degeneração Hepatolenticular/genética , Tremor/etiologia , Cobre , Testes GenéticosRESUMO
Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. The clinical manifestations of WD are complex and variable, with Kayser-Fleischer ring (K-F ring) and the sunflower cataract being the most common ocular findings. Visual impairment is rare in patients with WD. We report the case of a 17-year-old female with bilateral optic atrophy associated with WD and summarize the clinical features of previously reported cases of optic neuropathy in WD, Clinicians should be aware that WD is a rare cause of optic neuropathy and that optic neuropathy in patients with WD may need to be recognized and screened.
Assuntos
Degeneração Hepatolenticular , Atrofia Óptica , Doenças do Nervo Óptico , Feminino , Humanos , Adolescente , Degeneração Hepatolenticular/complicações , Degeneração Hepatolenticular/diagnóstico , Cobre , Doenças do Nervo Óptico/complicações , Atrofia Óptica/complicaçõesRESUMO
A 13-year-old boy of nonconsanguineous parents presented with abnormal body movements, gait difficulty, and slurring of speech for 2 years. On examination, he had rigidity, dystonia, dysarthria, and drooling. Ophthalmologic examination revealed bilateral Kayser-Fleischer rings. He had elevated serum "free" copper levels (41.2 µg/dL [range:10-15]), 24-hour urine copper levels (895.7 µg/d [range:<60]), and reduced serum ceruloplasmin levels (4.3 mg/dL (range:20-40]). MRI revealed "face of giant panda" appearance (Figure A), T2-fluid attenuated inversion recovery hyperintensities (Figure, B and C), and frontal cystic encephalomalacic changes (Figure D), suggestive of Wilson disease (WD). Face of giant panda in WD, first described by Hitoshi et al.,1 is due to high signal intensity in tegmentum with normal signals in red nuclei forming the eyes, normal signals of pars reticulata (lateral portion) of substantia nigra forming the ears, and hypointensity of superior colliculus forming the chin.2 Bilateral cystic changes are less commonly reported in WD.3 Recognizing diverse neuroimaging signatures beyond well-known findings in WD enhances diagnostic accuracy.
Assuntos
Degeneração Hepatolenticular , Adolescente , Humanos , Masculino , Cobre/urina , ATPases Transportadoras de Cobre , Degeneração Hepatolenticular/complicações , Degeneração Hepatolenticular/diagnóstico por imagem , NeuroimagemRESUMO
BACKGROUND: Wilson's disease (WD) is an inherited disorder of copper metabolism. Agenesis of the corpus callosum is the complete or partial absence of the major united fiber bundles connecting the cerebral hemispheres. Intracranial lipoma is an adipose tissue tumor resulting from an abnormal embryonic development of the central nervous system. The simultaneous occurrence of these three disorders is rare and has not been reported. This report focuses on the pathogenesis and association between the three disorders and highlights the importance of recognizing and effectively managing their coexistence. CASE PRESENTATION: The purpose of this study was to present a patient with coexisting WD, intracranial lipoma, and corpus callosum dysplasia. We reviewed a female patient hospitalized in 2023 with clinical manifestations of elevated aminotransferases and decreased ceruloplasmin, as well as genetic testing for an initial diagnosis of Wilson's disease. Subsequently, a cranial MRI showed corpus callosum dysplasia with short T1 signal changes in the cerebral falx, leading to a final diagnosis of Wilson's disease combined with intracranial lipoma and corpus callosum dysplasia. The patient's WD is currently stable after treatment with sodium dimercaptosulfonamide (DMPS) and penicillamine, and the patient's abnormal copper metabolism may promote the growth of intracranial lipoma. CONCLUSION: The pathogenesis of WD combined with intracranial lipoma and corpus callosum dysplasia is complex and clinically rare. The growth of intracranial lipomas may be associated with abnormal copper metabolism in WD. Abnormal copper metabolism affects lipid metabolism and triggers inflammatory responses. Therefore, early diagnosis and treatment are beneficial for improvement. Each new case of this rare co-morbidity is important as it allows for a better assessment and understanding of these cases' more characteristic clinical manifestations, which can help estimate the course of the disease and possible therapeutic options.