Inborn errors of metabolism (IEMs) are characterized by deficits in metabolic enzymes as a result of an inherited disease, leading to the accumulation or decreased excretion of proteins, carbohydrates and lipids. Although IEMs are often diagnosed during childhood, adolescent and adult onset variants may be accompanied by less somatic and more psychiatric manifestations, which often hampers recognition by psychiatrists of the distinction between a primary and secondary psychiatric disorder. To help clinicians in the diagnostic process, we aimed to provide an overview of psychiatric manifestations in IEMs. Our literature search yielded 4380 records in total, of which 88 studies were included in the qualitative synthesis. Reported psychiatric disorders in adolescent and adult IEMs included depression, anxiety disorder, psychosis, attention deficit hyperactivity disorder, autism spectrum disorder, bipolar disorder and obsessive-compulsive disorder as assessed by semi-structured diagnostic interviews and validated questionnaires. A diagnostic screener and multidisciplinary IEM clinics are proposed to help clinicians during the diagnostic process, to prevent diagnostic delay and to raise awareness of the psychiatric manifestations among IEMs.

Cyclic vomiting syndrome (CVS) is defined by episodes of vomiting lasting from a few hours to several days, alternating with periods of no symptoms. Various symptoms can be associated with vomiting such as nausea, migraine or abdominal pain. Common triggers of CVS include infection, psychological stress and menstruation. CVS's diagnosis requires exclusion of alternative diseases particularly neurological and gastrointestinal. CVS shares many common features with catamenial migraine including treatment. We herein report a case of CVS in a 16 years old girl characterized by stereotypical vomiting attacks occurring in every menstrual period. Recurrent vomiting episodes began 2 years before admission. Given the negativity of paraclinical exams and the absence of response to different therapeutic approaches as well as the similarity with catamenial migraine, we treated our patient with permenstrual percutaneous oestrogen for six months. The evolution was marked by the disappearance of symptoms within the first month and the absence of their recurrence after treatment cessation during a follow-up of 6 years.

Cyclic vomiting syndrome (CVS) is a functional gastrointestinal disorder that can occur in both children and adults. Clinical courses of CVS manifesting recurrent severe vomiting episodes and interval illness may affect the long-term quality of life in children with CVS. Therefore, we should be careful in accessing a patient suggestive of CVS. Accurate diagnosis based on diagnostic criteria for CVS and the exclusion from other organic diseases mimicking clinical manifestations of cyclic vomiting is absolutely required. In patients diagnosed as CVS, optimal therapy should be performed to improve symptoms and to reduce complications in prodromal phase and emetic phase, and long-term prophylactic therapy should be tried to prevent the development of vomiting episodes. The identification of triggering factors which induce vomiting episodes might be helpful in preventing vomiting attacks. Systematic approach should be recommended to improve clinical outcome of CVS.

Cyclic vomiting syndrome (CVS) is a disorder characterized by recurrent episodes of incapacitating nausea and vomiting interspersed with symptom free periods. Common triggers of cyclic vomiting include noxious stress, excitement, fatigue and menstrual period. Here, we report a case of cyclic vomiting syndrome in adult patient characterized by stereotypical vomiting attack, occurring in every menstruation period. Recurrent vomiting episodes began 6 years ago and we treated this patient with subcutaneous injection of goserelin, a gonadotropin-releasing hormone analogue (GnRHa) and oral estrogen. After 4 months of therapy, she was symptom free for the following 5 years, even with the resumed normal menstruation. Recurrence of vomiting attack with same pattern occurred 1 month before readmission. Treatment with intravenous lorazepam aborted vomiting, but could not prevent recurrences of vomiting and epigastric pain. We treated the patient with GnRHa and oral estradiol again which effectively prevented recurrence of the symptoms.

Some patients with diabetic gastroparesis exhibit cyclical symptoms. The purpose of this work was to study the subset of patients with cyclic vomiting characteristics, described as a cyclic vomiting pattern, in a population of patients with symptoms of diabetic gastroparesis.

Sixty-seven patients with symptoms of diabetic gastroparesis were investigated. The patients were divided into two groups based on the presence or lack of cyclic symptoms, and stratified by demographics, medical history, hemoglobin A1C, total symptom score (TSS), standardized gastric emptying test (GET), and electrogastrography (EGG).

Of these 67 patients, 38 (56%) had cyclic symptoms. The two groups were similar in age, gender, illness duration, insulin use, hemoglobin A1C values, and TSS. There were noteworthy differences regarding migraine headache (47.4% versus 20.7%, p=0.02), gastric emptying study (GES) at 1 h (84.1% versus 59.9%, p=0.02), EGG frequency (4.9 versus 3.6 cpm, p=0.05), and gastric emptying area under the curve (p=0.06).

A sizeable percentage of patients have cyclic symptom patterns and have a higher incidence of migraine headaches, a greater delay in gastric emptying, and more abnormal EGG frequencies than other patients with symptoms of diabetic gastroparesis.

CVS (cyclic vomiting syndrome) is a functional disorder that may occur in any age group of patients. In the past the disorder was considered to be fairly uncommon of unknown etiology. Treatment has generally been based on anecdotal reports.

Literature review was performed based on internet/Medline search as of April 2006.

CVS is much more common than previously thought, especially in adults and is commonly associated with migraine headaches and sharing many of its characteristic features. Genetic association with mitochondrial DNA has been recognized with CVS. Prompt diagnosis is essential in order to prevent the significant morbidity associated with CVS. It is mandatory to rule out certain life-threatening disorders that can mimic CVS. Treatment options are based on the particular phase of the syndrome in which a patient is in and carried out in a systematic manner.

Expert consensus is that CVS is a distinct disorder and is a part of the migraine spectrum (migraine headaches, CVS, and abdominal migraines). Once patients are properly diagnosed, treatment is highly effective. Because of renewed interest in CVS since the 1990's, many more patients in all age groups are being recognized who suffer from this disabling disorder. An increase in basic science and clinical research in CVS will hopefully lead to better patient outcomes.

To evaluate the clinical presentation, response to prophylactic therapy and outcome of children with cyclic vomiting syndrome (CVS) in Shiraz, Iran.

During a period of 11 years (March 1994 to March 2005), 181 consecutive children with a final diagnosis of CVS were evaluated, treated and followed in our center. Patients were randomized to receive either amitriptyline or propranolol as prophylactic treatments.

There were 88 boys and 93 girls with mean age of onset of symptoms of 4.9 +/- 3.3 years (range, neonatal period to 14 years), the mean age at final diagnosis was 6.9 years (range, 1.5 to 14), and the mean duration between the onset of the first attack and the final diagnosis of CVS was 2 +/- 1.81 years (range, 1/6 to 8). The mean duration of each attack was 4.26 days (range, from few hours to 10 d) and the mean interval between the attacks was 1.8 mo (range, 1 wk to 12 mo). The time of onset of the attacks was midnight to early morning in about 70% of cases. Amitriptyline was effective in 46 out of 81 (56%) patients (P < 0.001). Propranolol appeared to have a superior action and was effective in 74 out of 83 (92%) patients (P < 0.0001).

There is a significant lag time between the onset of clinical symptoms and the final diagnosis of CVS in our area. In patients with typical clinical presentations of CVS, who are examined by an experienced physician, invasive workup is not necessary. Propranolol appears more effective than amitriptyline for prophylactic use in children with CVS.

Cyclic vomiting syndrome (CVS), characterized by severe discrete episodes of nausea, vomiting, and lethargy, is a predominately childhood condition associated with migraine and dysautonomic features. Disease-associated mitochondrial DNA (mtDNA) sequence variants are suggested by a strong maternal bias in the inheritance of migraine, and the recent findings of mtDNA variants in a few children with CVS and additional neuromuscular disease manifestations ("CVS+"). A clinical interview using a questionnaire was administered (generally) to one parent of 62 children with CVS+. Non-senile disease manifestations, including migraine, myopathy, seizures, and dysautonomia-like symptoms, were far more common in matrilineal versus non-matrilineal relatives, including being present in 75% of the mothers versus in only 11% of the fathers (P < 0.001). Overall, maternal inheritance is suggested in 86% of the families (in 65% strongly so). Disease manifestations in subjects and their affected matrilineal relatives are predominately intermittent and consistent with dysautonomia, including increased vital sign fluctuations. Body fluid metabolites and muscle biopsy findings are consistent with mitochondrial dysfunction in most cases tested. We conclude that mtDNA sequence variants are at least risk factors in the development of disease in most children at this "severe" end of the CVS spectrum, likely involving a maternally inherited propensity towards dysautonomia.

To investigate autonomic regulation of neurocardiac signals in pediatric patients with cyclic vomiting syndrome (CVS).

Fourteen patients with CVS, ages 3 to 16 years, were screened to eliminate any underlying cause for their symptoms, although 11 of the 14 patients had a history of migraine in the immediate family. Analysis of autonomic regulation was accomplished through power spectral analysis of the beat-to-beat heart rate variability signal. Data from affected patients were compared with data from 38 control subjects, ages 5 to 16 years, by a one-way analysis of variance. A measure of sympathovagal balance was obtained by computing a ratio of power in the low-frequency band (0. 02-0.15 Hz) to the power in the high-frequency band (0.15-0.4 Hz).

Pediatric patients with CVS have an elevated sympathetic modulation of the sinus node as represented by the low frequency/high frequency ratio (1.45 +/- 0.42 in patients vs 0.89 +/- 0.29 in healthy control subjects, P <.001).

The patients with CVS we studied have an autonomic imbalance with enhanced sympathetic and diminished parasympathetic vagal modulation of the heart.

We present the role of the medical-psychiatric unit in the management of children and adolescents with somatic symptoms in whom diagnosis remains uncertain or delayed, which can lead to severe impairment in the child's normal development and functioning and cause anger and hostility in the families. We describe two patients, one with cyclic vomiting syndrome, considered a medical disorder, and the other with conversion disorder, considered a psychiatric disorder. Both patients had had multiple ER admissions and outpatient visits with elaborate and expensive diagnostic workups. On admission to our unit, a coherent and integrated treatment plan was finally formulated and successfully implemented. We discuss the advantage of the medical-psychiatric unit for simultaneous medical and psychosocial intervention early in the development of symptoms and signs. The units need to be ready and able to cope with a wide range of medical and psychiatric disorders with different levels of gravity.

To describe the clinical features, management and outcome of children with cyclic vomiting syndrome (CVS) from South-East Asia.

Retrospective review of all children who fulfilled the diagnostic criteria of CVS and who were seen at Department of Paediatrics, University of Malaya Medical Centre, Kuala Lumpur and Paediatric Unit, Penang Hospital, Penang, Malaysia from 1987 to 1997.

Eight children with CVS were seen at the two units during the study period, five girls and three boys. All had cyclical, self-limited episodes of nausea and vomiting with symptom-free intervals. The mean age of onset was 5.9 years. The clinical features were similar to other series described in the literature. Only two of the eight children were described as 'perfectionist'. Two children identified stress as precipitating factors. Therapy to reduce the number of emeses during acute attacks and to prevent subsequent attacks had been ineffective.

There are similarities and differences in CVS from South-East Asian children as compared to those described in the literature.

Thirty-two patients aged 2-22 y with cyclic vomiting syndrome (CVS), and 64 age- and gender-matched controls were assessed to determine the nature, severity, precipitants and associated features of attacks and the incidence of potential aetiological factors. The mean age of onset was 3.5 y. Patients experienced a mean of nine attacks per year, of average duration 2.4 d, and two-thirds missed more than 10 d of school per year. Patients were more likely to have migraine and co-ordination difficulties, a past history of forceps delivery and gastroesophageal reflux than controls. Compared with controls, subjects had a higher incidence of psychological symptoms (38% compared with 19%) and migraine (37% compared with 9%). CVS is a chronic, disabling condition and is a migraine variant, with attacks usually precipitated by stress and intercurrent infections.

To evaluate our experience using the antimigraine prophylactic drugs, amitriptyline and cyproheptadine, for the prophylactic management of cyclic vomiting syndrome (CVS) in children.

Twenty-seven patients (16 males) ranging in age from 2 to 16 years at diagnosis, fulfilling the diagnostic criteria for CVS and treated prophylactically with either amitriptyline (22) or/and cyproheptadine (6) were identified through retrospective chart review. Individual patient data were corroborated by the attending physician and/or interviews with patients and families. Minimum follow-up time before entry into the study group was 5 months. Patients were stratified according to three treatment outcomes: 1) complete response-no attacks, 2) partial response-50% or greater reduction in frequency of attacks, and 3) no response-less than 50% decrease in frequency of attacks.

Of the 22 patients treated with amitriptyline, 16 (73%) had a complete response while 4 (18%) had a partial response. Of the 6 patients treated with cyproheptadine, 4 (66%) had a complete response and 1 (17%) had a partial response. Thus, 91% of the amitriptyline group and 83% of the cyproheptadine group had at least a partial response to therapy. No patients experienced significant side effects to either medication.

The antimigraine prophylactic drugs, amitriptyline and cyproheptadine, represent effective prophylactic agents for the management of CVS in the vast majority of patients fulfilling the diagnostic criteria for this syndrome.