Acute esophageal necrosis: Case report of an unknown entity.

INTRODUCTION: Acute Esophageal Necrosis Syndrome (AENS) is a rare and unknown clinical entity, defined as a diffuse circumferential black-appearing friable esophageal mucosa going from the distal esophageal mucosa to the gastroesophageal (GE) junction. Esophagogastroduodenoscopy (EGD) remains the gold standard in making diagnosis. PRESENTATION OF CASE: We report here the case of a 45-year-old man with necrosis of the esophagus treated conservatively. Regression of the lesion but persistence of ulcerations were seen on the endoscopic follow-up. Distal esophageal stenosis was then diagnosed and treated by endoscopic dilation. DISCUSSION: Diagnosis of AENS must be considered when an old patient, with multiple comorbidities, presents an upper digestive hemorrhage. Upper endoscopy is mandatory. Treatment is in most of the cases conservative. Esophageal stenosis is a frequent complication. CONCLUSION: Although AENS is a rare clinical entity, it should not be dismissed by doctors, avoiding useless surgical management. This pathology remains nevertheless associated with a considerable mortality rate.

Can machine learning predict resecability of a peritoneal carcinomatosis?

BACKGROUND: Approximately 20% of initially eligible patients in a HIPEC procedure eventually underwent a simple surgical exploration. These procedures are called 'open & close' (O & C) representing up to 48% of surgery. The objective of this study was to predict the resecability of peritoneal carcinomatosis using a machine-learning model for decision-making support, for eligible patients of HIPEC. METHODS: The study was conducted as an intention to treat based on three databases including a prospective, between January 2000 and December 2015. A propensity score allowed us to obtain two groups of comparable and matched patients. Subsequently, several algorithm models of classification were studied (simple classification, conditional tree, support vector machine, random forest) to determine the model having the best performance and accuracy. RESULTS: Two groups of 155 patients were obtained: one group without resection and one group with resection. Nine criteria of non-resecability reflecting the organ involvement have been retained. They were coded according to their importance. Five classification algorithms were tested. The training data included 218 patients and 92 test data. The random forest model exhibited the best performance with an accuracy of close to 98%. Only two errors of predictions were observed. DISCUSSION: The largest number of patients will allow us to improve the precision prediction. Gathering more data such as biologic, radiologic, and even laparoscopic features, should improve the knowledge of the disease and decrease the number of 'O & C' procedures.

Pancreatico-gastric fistula complicating an intraductal papillary mucinous neoplasm.

Fistula as a complication of pancreatic intraductal papillary mucinous neoplasms (IPMN) is rare and may involve different adjacent organs, sometimes, several organs at the same time. Our patient had a pancreatico-gastric fistula, discovered at work-up for IPMN, which required extensive surgery.

[Psychiatric disorders in adult form of Niemann-Pick disease type C]. / Troubles psychiatriques dans la maladie de Niemann-Pick de type C chez l'adulte.

INTRODUCTION: Niemann-Pick type C disease (NPC) is a rare genetic disease with an extremely heterogeneous clinical presentation. The adult form of this disease is usually expressed with neurological symptoms; however, non-specific psychiatric disorders are often associated. This article presents a retrospective study on a cohort of NPC patients diagnosed in France with the objectives of researching the presence of psychiatric disorders and qualifying these disorders. METHODS: After carrying out a research within hospital records, a questionnaire was sent to patients or their relatives and their doctors. RESULTS: The cohort was made up of 22 patients. Fifty-two questionnaires were sent to 47 different doctors. We received 67% of answers from the doctors, with 42% of positive answers. The answer rate of the families was 27%. Among the 22 patients, we found the presence of psychiatric disorders in 86% of cases. Seventy-three percent of the patients presented behavior disorders. Among them, 27% exhibited psychomotor excitation or agitation, 23% aggressiveness, 18% intolerance to frustration, 27% sleep disorders and 23% apathy, listlessness and/or clinophilia. Fifty-five percent of patients presented psychotic symptoms, with 45% with delusions and 36% with hallucinations. Seventy-seven percent of patients presented with mood disorders: 36% suffered from depression and 27% from emotional lability or mood swings. Of the 22 patients, a diagnosis of psychiatric disease was made in 50% of cases. The main diagnoses were schizophrenia (27%) and depression (23%). The other diagnoses identified were acute delirium, dysthymia, infantile psychosis, intellectual disharmonic disability and personality disorder. The average age of emergence of the troubles was 17.1 years old for neurological symptoms and 20.9 years old for psychiatric symptoms. The median age was 18 years old for neurological symptoms and 20 years old for psychiatric ones. In 45% of cases, psychiatric occurred after neurological symptoms; in 27%, they occurred before and they were concomitant in 9%. In 50% of cases, psychiatric symptoms existed before the early diagnosis of NPC; in 9%, they occurred after and in 5%, they occurred during the diagnostic process. Fifty-five percent of the patients were followed by a psychiatrist, 50% of patients had been hospitalized at least once in a psychiatric department. Fifty-five percent of the patients received neuroleptics or antipsychotics, 41% received antidepressants, 41% received mood stabilizers or anticonvulsants, 45% received anxiolytics and 23% hypnotics. DISCUSSION: Whilst a small cohort, the low incidence of NPC (1/120,000 to 1/150,000) and the scale of a single-center study make the findings important. In our cohort, we found psychiatric disorders in most of the patients. The symptoms were varied and non-specific, and mainly found in late-onset forms of the disease. This incidence of disorder is much higher than the literature suggests, generally describing psychiatric disorders in approximately one third of NPC adult form. On the other hand, our results on schizophrenia are consistent with the updated recommendations for the diagnosis and management of NPC. According to our results, a retrospective study to develop a suspicion index to aid diagnosis of NPC suggests that psychotic symptoms are underestimated in this disease. In our cohort, we also found a significant rate of psychiatric hospitalizations and psychotropic drugs prescription that had not been previously described in the international literature. We did not have sufficient data on the effectiveness of symptomatic treatment in NPC; the literature was contradictory. It should be noted that despite the high rate of psychiatric patients in our cohort, only half of patients consulted a psychiatrist and a few of them have regular follow-up. To conclude, our study is in line with the current literature that suggests an under-estimation of psychiatric disorders in NPC, but also a likely under-diagnosis of NPC in psychiatric departments. All this data encourage us to keep alerting psychiatrists to identifying this disease in order to promote early and optimal care.

[Niemann-Pick type C disease and psychosis: Two siblings]. / Maladie de Niemann-Pick de type C et troubles psychiatriques : le cas d'une fratrie.

INTRODUCTION: Niemann-Pick type C disease (NPC) is a rare, neurovisceral, autosomal recessive disease, with an extremely heterogeneous clinical presentation. The adult form of the disease is usually expressed as a neurological form. Non-specific psychiatric symptoms are often associated with NPC. For some cases, it can also be expressed as an isolated psychiatric disorder form. Since 2009, the launching of a medicine called miglustat has helped to improve the disease evolution. CASE HISTORIES: We report two siblings followed-up in the same department of psychiatry and with an atypical psychotic symptomatology. Case 1 is a 27-year-old French male. He was hospitalised several times due to disordered behaviour, psychomotor excitation, mood instability and wandering. He was originally diagnosed with schizophrenia. However, the patient's psychosis proved refractory to treatment. He also exhibited a number of neurological signs (pyramidal signs and abnormal movements of the hands, head and limbs), which were considered related to his antipsychotic medication. Three years later, a full physical, neurological and neuropsychological examination revealed various neurological and visceral symptoms. He was diagnosed with NPC based on a classical biochemical NPC-phenotype following filipin staining in cultured skin fibroblasts. NPC1 gene sequencing revealed that he was a compound heterozygote for the p.S954L and p.N1156S mutations. The patient's psychiatric and neurological symptoms are currently stabilized by miglustat, allowing the patient to cease antipsychotic medication. Case 2 is the elder sister of Case 1. She was hospitalised several times due to acute delirium, hallucinations and suicidal tendencies. She was diagnosed with paranoid schizophrenia at 22 years of age. She has received a variety of typical and atypical antipsychotics. Many of these drugs proved initially effective but the patient's symptoms repeatedly returned. The patient shows persistent and worsening gait disorder and abnormal arm movements. A follow-up neurological examination at age 29 did not detect any ataxia, cataplexy or vertical supra-nuclear gaze palsy. Direct NPC1 gene sequencing detected a mutant NPC1 allele held in common with her brother, but full sequencing of both the NPC1 and NPC2 genes and multiplex ligation-dependent probe amplification (MLPA) did not detect any other pathogenic mutation or other anomalies. DISCUSSION: Because NPC is an autosomal recessive condition, heterozygous individuals carrying only one causal gene mutation are usually asymptomatic. Thus, while the accepted wisdom would suggest that patient 2 is not affected by the disease, it is interesting to consider why she has developed neurological and psychiatric disorders like her brother. Several hypotheses are discussed: mental expression in heterozygous genetic factor predisposing to schizophrenia, comorbidity or fortuitous association. It is not currently known whether a patient with a single NPC gene mutation can express NPC in full, partially, or perhaps just to a minimal degree. This case of a patient with a heterozygous "carrier" NPC genotype and neuropsychiatric disorders suggestive of the disease raises the possibility that symptomatic heterozygous NPC patients may exist. On the other hand, if the heterozygous genotype of patient 2 does not give rise to symptomatic disease, it is pertinent to question whether it could be a predisposing factor for the development of psychiatric pathologies. There are currently no published data on the occurrence of heterozygous NPC1 or NPC2 mutations among patients with atypical psychiatric presentations combined with neurological symptoms. Conversely, there are no published data demonstrating an increased frequency of psychiatric disorders in families affected by NPC. Finally, in view of the history of psychiatric disorders in this family, it is possible that psychosis simply occurred concomitantly with symptomatic NPC in patient 1 by chance, and that schizophrenia occurred simultaneously with an asymptomatic NPC carrier genotype in patient 2. To investigate this further, NPC patients' carrier family members (parents and siblings) should be fully screened for signs suggestive of the disease.

[Adult onset Niemann-Pick type C disease and psychosis: literature review]. / Maladie de Niemann-Pick de type C chez l'adulte et troubles psychiatriques : revue de littérature.

INTRODUCTION: Niemann-Pick type C disease (NPC) is a rare hereditary disease, which psychiatrists do not face often in France. Indeed, only a couple of articles specifically describing the psychiatric-disorders in the adult form have been published. And for the most part, they were not written by psychiatrists. This comprehensive international literature review aims at providing knowledge on this disease to French psychiatrists. METHODS: To achieve this literature review, we used the "PubMed" search engine, looking for the following keywords: Niemann-Pick type C AND (schizophrenia OR psychosis). RESULTS: Niemann-Pick type C disease (NPC) is a rare, neurovisceral, autosomal recessive disease, with an extremely heterogeneous clinical presentation. It is characterized by a wide range of symptoms that are not specific, such as neurological, systemic or psychiatric symptoms. The adult form of the disease concerns a small proportion (5 %) of the people affected and is usually expressed as a neurological form. A variety of progressive and disabling symptoms are encountered, mainly cerebellar signs (cerebellar ataxia, impaired gait, dysarthria), but also movement disorders, cataplexy, seizures and dysphagia. Patients face constant cognitive deterioration, which can result in severe dementia. Abnormal saccadic eye movement is often the first manifestation of the disease. Supranuclear gaze palsy is considered to be a specific sign and should be systematically searched for. In terms of systemic signs, the usual infantile hepatosplenomegaly is very fickle in the adult form; if present, it is usually asymptomatic. Non-specific psychiatric symptoms are often associated with NPC disease. For one third of cases, it can also express as an isolated psychiatric-disorder form, such as schizophrenia-like psychosis (paranoid delusions, auditory hallucinations, interpretative thoughts, and disorganization), depression, bipolar disorder, obsessive-compulsive behaviour and behavioural problems (sleep disorders, hyperactivity, agitation, aggressiveness or self-mutilations). This psychiatric overview is mostly atypical and is accompanied by visual hallucinations, confusion, symptom fluctuations, treatment resistance or aggravation with neuroleptic drugs, catatonia, progressive cognitive decline, but also seizures. The late appearance of neurological manifestations is often wrongfully attributed to the effects of antipsychotic medication, which generates tardy diagnosis. Most of NPC affected patients die prematurely. NPC diagnosis is based on a filipin test on a fibroblast culture from a skin biopsy and also on a sequencing of the NPC1 and NPC2 genes. Routine laboratory biochemistry profiles are generally normal. The early diagnosis is fundamental to deploy the best follow-up care. The patient should therefore be in contact with a reference centre. Until recently, NPC treatment consisted in supportive therapies and symptomatic drugs, useful, however, with variable efficacy. The recent discovery of a medicine called Miglustat (N-butyldeoxynojirimycin; NB-DJN; Zavesca(®), Actelion Pharmaceuticals Ltd.) which improves the disease evolution, should encourage psychiatrists to look for it in every atypical psychosis.