Acquired hemophilia A is a rare autoimmune bleeding disorder caused by autoantibodies against factor VIII. Peripartum cases account for approximately 7–11
Thyroid dysfunction is a well-established cause of secondary psychiatric disturbances. While hypothyroidism is classically associated with depressive symptoms and hyperthyroidism with anxiety and irritability, atypical presentations can occur. Here, we report a case of hyperthyroidism that presented with a depressive syndrome accompanied by psychotic features—a manifestation that remains under-recognized and poses significant diagnostic challenges in psychiatric emergency settings. A 31-year-old woman presented with a 3-day history of reduced speech, frequent crying, refusal to eat, resistance to treatment, and self-injurious behavior. Examination revealed fever (37.5 °C), tachycardia (121 bpm), and a tearful, largely mute affect. Emergency investigations including cranial CT and routine blood tests were unremarkable, and a preliminary diagnosis of acute psychotic disorder was made. Admission laboratory screening unexpectedly revealed marked hyperthyroidism: total thyroxine 319.14 nmol/L (reference: 69.71–163.95) and thyroid-stimulating hormone < 0.01 mIU/L (reference: 0.38–5.33). Thyroid ultrasonography and elevated thyroid-stimulating immunoglobulin confirmed Graves' disease with impending thyroid storm. The patient was treated with propranolol, propylthiouracil, and intensive care monitoring. Following endocrine stabilization, psychiatric symptoms showed only partial improvement; residual symptoms responded to low-dose lithium carbonate (0.3 g daily, discontinued after 4 days) and risperidone (titrated to 2 mg daily), with antidepressants deliberately avoided based on individual clinical circumstances. The patient was discharged in markedly improved condition on day 16. Retrospective history later revealed a 1-year history of unreported hyperthyroid symptoms. Follow-up was limited because the patient relocated; telephone contact indicated stable mood and discontinuation of risperidone, but she declined to provide laboratory reports or participate in long-term follow-up. This case illustrates that hyperthyroidism may present with a predominantly depressive syndrome accompanied by psychotic features, challenging the conventional dichotomy of thyroid-related psychiatric presentations. An initially incomplete collateral history and the absence of classic physical signs delayed diagnosis, underscoring the importance of routine laboratory screening in psychiatric emergencies. Direct causation cannot be established from a single case, and the treatment approach represents an individualized clinical decision rather than a general management strategy.
Chronic lymphocytic leukemia (CLL) is typically an indolent B-cell malignancy involving the blood, bone marrow, lymph nodes, and spleen. Although hepatic infiltration may occur, it is usually clinically silent. Acute liver failure (ALF) as the initial presentation of CLL is exceedingly rare, and the mechanisms underlying severe hepatic dysfunction remain poorly understood. We report a 65-year-old Caucasian man with no significant prior medical history who presented with constitutional symptoms, acute encephalopathy, profound anemia, marked leukocytosis, hyperbilirubinemia, and severe hepatocellular injury. Evaluation demonstrated warm autoimmune hemolytic anemia, with positive direct antiglobulin testing (IgG), undetectable haptoglobin, elevated lactate dehydrogenase, and reticulocytosis. Imaging revealed hepatomegaly and marked splenomegaly without significant lymphadenopathy. Peripheral blood flow cytometry confirmed CLL. Additional molecular studies demonstrated deletion of 13q14.3, with negative TP53 mutation testing and no evidence of MYC, BCL6, or IGH::BCL2 rearrangements. Because the etiology of the rapidly progressive ALF remained uncertain despite extensive evaluation, an image-guided percutaneous liver biopsy was performed. Histopathologic examination demonstrated marked acute cholestasis and portal infiltration by CLL. Following the procedure, the patient developed hemorrhagic shock due to massive intra-abdominal bleeding and died within 24 h. Postmortem examination confirmed hepatic involvement by CLL and extensive intra-abdominal hemorrhage. Acute liver failure may rarely accompany newly diagnosed CLL, with hepatic dysfunction reflecting multiple concurrent mechanisms rather than leukemic infiltration alone. When liver biopsy is necessary in a coagulopathic patient, a transjugular approach should be preferred to reduce the risk of intraperitoneal hemorrhage. Transient INR improvement following blood product administration does not resolve the underlying cause of coagulopathy or establish procedural safety.
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a very rare autosomal recessive syndrome due to biallelic mutations in ROBO3 gene. HGPPS is defined by congenital deficiency of conjugated horizontal eye movements and development of progressive scoliosis. Some patients are diagnosed with this condition before the onset of scoliosis. An 8-month-old male infant, born from parents with no consanguinity, was referred for inability to track moving targets. The patient presented with bilateral horizontal gaze palsy without any involvement of vertical gaze, intact pupil responses and without presence of ptosis, nystagmus, facial weakness and spinal deformity. Magnetic Resonance Imaging (MRI) revealed pontine hypoplasia with midline pontine cleft (“split pons” sign) and butterfly appearance of the medulla, while spinal MRI demonstrated normal anatomy. The molecular genetic testing using targeted next-generation sequencing revealed a homozygous nonsense mutation in ROBO3 gene, ROBO3 NM_022370.3:c.1450C > T (p.Arg484Ter), which was considered as a pathogenic variant according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) criteria (PVS1, PM2_Supporting, PP4 [reported by the lab as being pathogenic]). Both parents carried heterozygous mutation. After 12 months since first visit (20 months old) the patient presented unchanged horizontal gaze palsy and no scoliosis. In a child with congenital HGPPS, specific MRI brainstem features should lead to ROBO3 genetic testing, even in the absence of spinal involvement. This case provides a rare homozygous nonsense mutation that has not been described before in either population genetic databases or ClinVar. The follow-up period is short, and scoliosis may yet occur.
A 23-year-old female with major depressive disorder (MDD), non-suicidal self-injury and generalized somatic pain was treated with duloxetine hydrochloride enteric-coated capsules, quetiapine fumarate tablets, and aripiprazole orally disintegrating tablets, with significant pain relief. Dexzopiclone tablets were added for insomnia, and all medications were kept by her mother. Despite compliance with medication, the patient had persistent suicidal ideation and secretly ingested 4500 mg duloxetine and 63 mg dexzopiclone on February 18, 2021. She was rushed to hospital 3.5 h later and received emergency treatment including oxygen inhalation, gastric lavage and high-dose vitamin B6/C infusion. Combined with psychological suggestion and cognitive therapy, she recovered and was discharged 12 days later. At the 4.5-year follow-up (September 2025), the patient had discontinued lurasidone and quetiapine, both of which were started during index hospitalization; she demonstrated normal daily functioning with no recurrent suicidal ideation or self-injury. To our knowledge, severe toxicity from co-ingestion of supratherapeutic doses of duloxetine and dexzopiclone has been rarely documented; this report details the clinical management and differential diagnosis strategies for this rare drug-combination toxicity.
