Citrulinemia de presentación atípica: hipo persistente: a propósito de un caso / Citrullinemia with an atypical presentation: persistent hiccups: case report

Se informa el caso de un neonato que desarrolló encefalopatía en el transcurso de los primeros tres días de vida. Presentaba hipo persistente, que evolucionó a coma profundo 72 horas después de la admisión al hospital. Los parámetros de septicemia y el análisis del líquido cefalorraquídeo (LCR) fueron normales. Tras la evaluación metabòlica, se confirmó la presencia de hiperamoniemia e hipercitrulinemia. El índice de la concentración de LCR/glicina en plasma era normal. Esto no coincidió con nuestro diagnóstico inicial de hiperglicinemia no cetósica, que suele manifestarse con hipo. Se recomienda tener en cuenta la deficiencia de ácido argininosuccínico sintetasa (ASD por su sigla en inglés; citrulinemia) de inicio neonatal en el diagnóstico diferencial de encefalopatía asociada con hipo durante el período neonatal, lo que sugiere una enzimopatía congénita.

We report an infant who developed encephalopathy within the first 3 days of life. He had persistent hiccups that progressed to deep coma 72 hours after admission. The sepsis parameters and cerebrospinal fluid examination (CSF) were normal. The metabolic evaluation confirmed hyperammonemia, and hypercitrullinemia. The ratio of CSF/plasma glycine concentration was normal. This did not agree with our initial diagnosis of nonketotic hyperglycinemia where hiccups is present more often. Neonatal onset of argininosuccinic acid synthetase deficiency (ASD; citrullinemia) should be brought in mind in the differential diagnosis of encephalopathy in association with hiccups in the neonatal period suggesting inborn errors of metabolism.

Hipo, un desafío diagnóstico / Hiccup, a diagnostic challenge

El hipo es una contracción espasmódica involuntaria del diafragma que desencadena una inspiración súbita y cierre abrupto de la glotis originando un sonido característico. Según su duración se clasifica en ataque de hipo, hipo persistente o hipo intratable o rebelde. Presentamos el caso de un varón de 75 años de edad con hipo rebelde que le impedía conciliar el sueño, diurno y nocturno, asociado a eructos, de tres años de evolución, refractario al tratamiento con clorpromazina. Luego de una extensa evaluación se llegó al diagnóstico de tumor en seno etmoidal derecho. Se efectuó la resección del tumor y posterior radioterapia local con desaparición del hipo. Consideramos ésta una causa rara de hipo rebelde que generó un desafío diagnóstico y terapéutico.

Hiccup is a spasmodic involuntary contraction of the diaphragm which triggers a sudden inspiration and an abrupt closure of the glottis with a characteristic sound. Regarding its duration, it is classified as hiccup attack, persistent hiccup or rebellious or intractable hiccup. We present the case of a 75 old male with rebellious hiccup which prevented him to fall asleep by day or by night, associated with belches lasting for three years, refractory to chlorpromazine. An extensive evaluation led to the diagnosis of right ethmoid sinus tumor. The tumor resection was performed and after subsequent local radiotherapy the hiccup disappeared. We consider this a rare cause of rebellious hiccup that generated a diagnostic and therapeutic challenge.

Hipo Persistente como forma de presentación de la enfermedad por reflujo gastroesofágico / Persistent hiccup as a presentation form of the disease for gastro-esophageal reflux

El hipo persistente (singultus) es aquel que se presenta en forma de un ataque prolongado o ataques recurrentes durante un tiempo determinado, generalmente más de 48 horas, suele resolverse sin tratamiento farmacológico, pero puede ser necesario administrarlo y plantear su estudio etiológico. Esta entidad infrecuente se presenta en un hombre de 63 años, con historia de singultus desde hace tres años, que aparece fundamentalmente posterior a la ingestión de alimentos y persiste durante varios minutos u horas, todos los días. Las causas del singultus pueden ser gastrointestinales (reflujo gastroesofágico, hernia del hiato, esofagitis, úlcera gástrica, pancreatitis, carcinoma esofágico, masas hepáticas, ascitis, cirugía abdominal), neurológicas, vasculares, torácicas, metabólicas, tóxicas, fármacos y otras. Se le realiza interrogatorio y examen físico minucioso, electrocardiograma, rayos X de tórax y abdomen, analítica sanguínea, ultrasonido abdominal, Endoscopia superior, tomografía de tórax y abdomen, además de Manometría esofágica y la prueba terapéutica con omeprazol, diagnosticándose una enfermedad de reflujo gastroesofágico. Se pone tratamiento basado en medidas populares, y medicamentos del síntoma fundamental con cloropromacina (tabletas de 25mg): 1 tableta cada 8 horas, obteniendo mejoría ostensible del mismo, hasta el momento en que se diagnóstica la causa etiológica, donde se pone tratamiento específico de la enfermedad de reflujo gastroesofágico con omeprazol (20mg): 1 Cápsula cada 12 horas y domperidona, obteniendo la desaparición del síntoma que causó la consulta inicial del paciente.

The persistent hiccup (singultus) is the one that shows up as a prolonged attack or recurrent attacks during a determinant period of time, generally, more than 48 hours. It uses to resolve without a pharmacological treatment, but it could be necessary a treatment and posing its etiological study. This infrequent entity is presented in a man, aged 63 years, with a history for three years, appearing mainly after the food intake and persisting for several minutes or hours, every day. The singultus’s causes may be gastrointestinal (gastro-esophageal reflux, hiatal hernia, esophagitis, gastric ulcer, pancreatitis, esophageal carcinoma, hepatica masses, ascites, abdominal surgery), neurological, vascular, thoracic, metabolic, toxic, medicine, and others. We performed a questioning and a meticulous physical examination, an electrocardiogram, thorax and abdominal X-rays, blood analyses, abdominal ultrasound, superior endoscopy, thoracic and abdominal tomography, in addition to esophageal manometry and the therapeutic test with Omeprazol, diagnosing a gastro-esophageal reflux disease. We prescribed a treatment based on popular measures, and medication for the main symptom with chlorpromazine (25 mg tablets): 1 tablet each 8 hours, achieving a clear improvement of the symptom until the moment when the etiological cause was diagnosed and a specific treatment for the gastro-esophageal reflux disease was ordered with omeprazole (20 mg): 1 capsule each 12 hours and domperidona, reaching the disappearance of the symptom that caused the patient´s initial consultation.

Hipo (singultus): revisión de 24 casos / Hiccup: Review of 24 cases

Background: Although common and usually benign, hiccups can be an extremely uncomfortable disease. There is not much information about persistent and refractory hiccups. Aim: To report clinical features of patients admitted in a hospital due to hiccup. Patients and Methods: A retrospective study and prospective follow up of patients admitted for hiccup in Hospital Cl¡nico de Santiago de Compostela between January 1998 and May 2005. Results: Twenty four patients (age 47 to 91 years, 23 males) were studied. Nineteen (79 percent) were admitted because of persistent hiccups. In twenty one patients, at ¡east one organic etiology was identified, and thirteen patients presented two or more possible associated conditions. The most common possible causes were digestive tract disorders, followed by central nervous system diseases. Twelve patients had a history of exposure to drugs that potentially could cause hiccups, mainly corticosteroids and benzodiazepines. Chlorpromazine was the first choice treatment in 23 patients, but seven required a second line drug. Average hospital stay was 13 days (range 3-90 days). Twelve patients died during follow up. Death occurred during the first three months of follow up in 61 percent. Conclusions: Persistent hiccup is often associated with organic conditions, specially advanced tumors of the digestive tract. It is usually associated with a bad prognosis.

Hiccups and multiple sclerosis.

Hiccups is a rare and unfamiliar presenting symptom of multiple sclerosis. Patients admitted to Ramathibodi Hospital from 1969 to 1992 who had a clinical diagnosis of multiple sclerosis were reviewed The presenting symptoms and neurological signs were analysed. The clinical features and course of the disease of cases who initially presented with intractable hiccups were studied in detail. There were 4 cases out of a total of 47 cases (8.5%) who presented with hiccups. These patients all had relapse and remission and two of them had a rather fulminant course of illness. Therefore, multiple sclerosis should be seriously considered as a possible cause of intractable hiccups. It may be of benign or malignant form. In the latter, the patients may develop quadriparesis within hours or days and respiratory failure may ensue. They usually respond well to high dose intravenous corticosteroids especially pulse methylprednisolone.

Hyponatraemia and hiccups.

BACKGROUND. Hiccups are observed in many patients with hypohatraemia. We performed a case-control study to evaluate their association in a referral teaching hospital in South India. METHODS. Fifty consecutive patients who developed hiccups during an 18-month period were studied. They were categorized according to age group and diagnosis and controls matched for age and sex were selected from patients admitted on the same day in the medical wards. Hiccups were graded on a four-point severity scale at recruitment and every day till day 7 or till hiccups subsided. RESULTS. The step-wise logistic regression analysis done to establish independent association showed that for every 10 mEq/L reduction in serum sodium, patients were 17 times (p = 0.001; confidence interval: 4-87) at risk of developing hiccups. The only other significant determinant of the symptom was the diagnostic category of renal failure (odds ratio = 128; confidence interval: 1-1420). The number of patients who had hyponatraemia with varying severity of hiccups showed a dose-response relationship. The crude odds ratios were 7, 58 and 320 for mild, moderate and severe hiccups. CONCLUSION. There is a strong and independent association between hyponatraemia and hiccups in hospitalized patients. A causative association is suggested by the dose-response relationship demonstrated in the study. In many hospitals in developing countries where measurement of serum sodium is difficult and unreliable, it is important to be aware of this association since it can be easily corrected.

Hipo persistente: causas, diagnóstico y tratamiento / Persistent hiccup: causes, diagnosis and treatment

El hipo es un fenómeno común producido por la activación de un reflejo primitivo con centro propio en el sistema nervioso central. La mayor parte de los episodios de hipo suelen durar unos minutos y autolimitarse; pero el hipo puede adquirir el carácter de persistente y convertirse en un verdadero problema para el médico y para el paciente. El centro del hipo puede ser activado por una gran variedad de estímulos, que viajan por vías nerviosas diversas y hacen responder a distintos efectores. Las causas de hipo son muchas y muy diversas, lo que exige el estudio sistematizado de todo paciente con hipo persistente.