Late-onset cobalamin C (cblC) deficiency is an inherited organic acid metabolic disorder characterized by clinical heterogeneity, which often presents challenges in accurate diagnosis. This article presents a case study of a young female patient who initially experienced epileptic-like seizures. Over a span of 9 years, she subsequently developed psychotic symptoms. Her condition has been steadily deteriorating over a period of 16 years, leading to mutism, loss of ambulation, dysphagia, and urinary and fecal incontinence. Although electroencephalography and cranial computed tomography did not show significant findings during the course of the illness, cranial magnetic resonance imaging showed evidence of cerebral atrophy. Biochemical analysis revealed elevated levels of blood homocysteine and urinary methylmalonic acid-2. Genetic testing identified two pathogenic mutations in the MMACHC gene, confirming the diagnosis of late-onset cobalamin C (cblC) deficiency. Despite receiving interventions such as antiepileptic and antipsychotic medications during the diagnostic and therapeutic phases, the patient′s clinical progress remained limited.Following the definitive diagnosis, targeted metabolic therapy was initiated, leading to significant clinical improvement. This article provides a comprehensive review of the patient′s clinical data, along with a synthesis of relevant literature, in order to enhance the awareness of psychiatric practitioners regarding this rare disorder. The primary objective is to promote early identification, prompt diagnosis, and timely intervention.

Late-onset cobalamin C (cblC) deficiency is an inherited organic acid metabolic disorder characterized by clinical heterogeneity, which often presents challenges in accurate diagnosis. This article presents a case study of a young female patient who initially experienced epileptic-like seizures. Over a span of 9 years, she subsequently developed psychotic symptoms. Her condition has been steadily deteriorating over a period of 16 years, leading to mutism, loss of ambulation, dysphagia, and urinary and fecal incontinence. Although electroencephalography and cranial computed tomography did not show significant findings during the course of the illness, cranial magnetic resonance imaging showed evidence of cerebral atrophy. Biochemical analysis revealed elevated levels of blood homocysteine and urinary methylmalonic acid-2. Genetic testing identified two pathogenic mutations in the MMACHC gene, confirming the diagnosis of late-onset cobalamin C (cblC) deficiency. Despite receiving interventions such as antiepileptic and antipsychotic medications during the diagnostic and therapeutic phases, the patient′s clinical progress remained limited.Following the definitive diagnosis, targeted metabolic therapy was initiated, leading to significant clinical improvement. This article provides a comprehensive review of the patient′s clinical data, along with a synthesis of relevant literature, in order to enhance the awareness of psychiatric practitioners regarding this rare disorder. The primary objective is to promote early identification, prompt diagnosis, and timely intervention.

Objective To investigate the clinical and pathologic features of patients with gastric neuroendocrine neoplasms (g-NENs).Methods A total of 50 cases of g-NENs diagnosed by pathology in the First Hospital of Jilin University from May 2012 to January 2016 were retrospective analyzed to summarize the clinical manifestations and pathological features.The location of lesion,gross morphology,maximum diameter,lymph node metastasis rate,distant metastasis rate,and survival time between patients with neuroendocrine tumors and neuroendocrine carcinomas were compared.Results Among the 50 patients,34 were males and 16 were females with a male to female ratio of 2.125 ∶ 1.Their age ranged from 33 to 77 years with an mean age of 60± 11 years.There were 13 cases (26％) of neuroendocrine tumors,31 (62％) neuroendocrine carcinomas,and 6 (12％) mixed adenoneuroendocrine carcinomas.The maximum diameter of lesion was less than 2 cm in 8 cases (16％),and equal or greater than 2 cm in 42 cases (84％).There was single lesion in 48 cases (96％) and multiple lesions in 2 cases (4％).There were 19 cases (38％) located in gastric antrum,16 (32％) in gastric body,11 (22％) in gastric fundus or cardia,3 (6％) in gastric angle,and 1 (2％) in the junction of gastric antrum and body.Thirty-two patients (64％) had metastasis,including 20 cases of lymph node metastasis and 12 cases of distant metastasis.The clinical symptoms of the patients were different,mainly were digestive system symptoms and tumor occupying symptoms,and no carcinoid syndrome was reported.The gross morphology (x2 =24.446.P =0.000).maximum diameter (t =-4.044,P =0.001),lymph node metastasis rate (x2=4.435,P =0.035),and survival time (t =2.925,P =0.000) were significantly differences between 13 cases of neuroendocrine tumors and 37 cases of neuroendocrine carcinoma.But the location of lesion (x2 =6.921,P=0.082) and distant metastasis rate (x2 =0.715,P =0.389) were no statistically different between the two groups.Conclusion Gastric neuroendocrine neoplasms can occur in any part of stomach,majority of tumor is single lesion and lack of specific clinical manifestations.The mostly gross morphology of gastric neuroendocrine carcinoma and mixed adenoneuro-endocrine carcinoma are ulcer type with a large diameter and poor prognosis.