Hypertonic saline infusion does not improve the chance of primary fascial closure after damage control laparotomy: a randomized controlled trial.

BACKGROUND: Previous observational studies showed higher rates of abdominal wall closure with the use of hypertonic saline in trauma patients with abdominal injuries. However, no randomized controlled trials have been performed on this matter. This double-blind randomized clinical trial assessed the effect of 3% hypertonic saline (HS) solution on primary fascial closure and the timing of abdominal wall closure among patients who underwent damage control laparotomy for bleeding control. METHODS: Double-blind randomized clinical trial. Patients with abdominal injuries requiring damage control laparotomy (DCL) were randomly allocated to receive a 72-h infusion (rate: 50 mL/h) of 3% HS or 0.9 N isotonic saline (NS) after the index DCL. The primary endpoint was the proportion of patients with abdominal wall closure in the first seven days after the index DCL. RESULTS: The study was suspended in the first interim analysis because of futility. A total of 52 patients were included. Of these, 27 and 25 were randomly allocated to NS and HS, respectively. There were no significant differences in the rates of abdominal wall closure between groups (HS: 19 [79.2%] vs. NS: 17 [70.8%]; p = 0.71). In contrast, significantly higher hypernatremia rates were observed in the HS group (HS: 11 [44%] vs. NS: 1 [3.7%]; p < 0.001). CONCLUSION: This double-blind randomized clinical trial showed no benefit of HS solution in primary fascial closure rates. Patients randomized to HS had higher sodium concentrations after the first day and were more likely to present hypernatremia. We do not recommend using HS in patients undergoing damage control laparotomy. Trial registration The trial protocol was registered in clinicaltrials.gov (identifier: NCT02542241).

Factores de riesgo asociados a deshidratación hipernatrémica neonatal / Risk factors associated with neonatal hypernatremic dehydration

Introducción: La deshidratación hipernatrémica neonatal es un problema creciente, en la que la alimentación y los conocimientos sobre cuidados del recién nacido juegan un papel primordial. Objetivo: Determinar los factores de riesgo asociados a la deshidratación hipernatrémica en neonatos. Métodos: Estudio observacional descriptivo retrospectivo en una población de 20 neonatos con deshidratación hipernatrémica ingresados en el servicio de cuidados intermedios de un hospital de Lima, Perú entre junio 2017- septiembre 2018. Todos tenían concentraciones de sodio sérico≥150 mmol/L. La recolección de la información se extrajo de las historias clínicas. Resultados: De los 20 neonatos con deshidratación hipernatrémica; los nacidos por cesárea equivalen a 30 por ciento, mientras que por parto vaginal, a 70 por ciento de los casos. Se demostró que hay una relación inversa entre número de gestación y concentraciones de sodio al ingreso, sin embargo, no hubo significación estadística. Se logró una disminución entre sodio de entrada y su primer control, con una media de disminución de 0,57 meq/L/h. Clínicamente los neonatos afectados desarrollaron en mayor porcentaje ictericia y fiebre. No se encontró relación significativa entre el resto de los factores asociados. Conclusiones: Entre los factores de riesgo asociados a la deshidratación hipernatrémica, destaca que el grupo nacidos por cesárea fue menor que los nacidos por parto vaginal, lo que influye en el número de altas precoces al nacimiento. Ictericia y fiebre continúan siendo las características clínicas que debe identificarse tempranamente. Se trata de un cuadro prevenible si se brinda adecuada información a la madre sobre cuidado neonatal(AU)

Introduction: Neonatal hypernatremic dehydration is a growing problem, in which feeding and knowledge about newborn care play a key role. Objective: To determine the risk factors associated with hypernatremic dehydration in neonates. Methods: Retrospective descriptive observational study in a population of 20 neonates with hypernatremic dehydration admitted to the intermediate care service of a hospital in Lima, Peru between June 2017 and September 2018. All of them had serum sodium concentrations≥150 mmol/L. The collection of information was extracted from medical records. Results: Of the 20 neonates with hypernatremic dehydration, those born by cesarean section are equivalent to 30 , while by vaginal delivery, 70% of cases. It was shown that there is an inverse relationship between gestation number and sodium concentrations at admission, however, there was no statistical significance. A decrease was achieved between input sodium and its first control, with a mean decrease of 0.57 meq/L/h. Clinically, the affected neonates developed a higher percentage of jaundice and fever. No significant relationship was found between the rest of the associated factors. Conclusions: Among the risk factors associated with hypernatremic dehydration, it stands out that the group born by cesarean section was lower than those born by vaginal delivery, which influences the number of early discharges at birth. Jaundice and fever continue to be the clinical features that should be identified early. This is a preventable condition if adequate information is provided to the mother about neonatal care(AU)

[Dysnatremias and their association with morbidity and mortality in patients with COVID- 19]. / Disnatremias y su asociación con morbimortalidad en pacientes con COVID-19.

Background: Coronavirus disease 2019 (COVID-19) has provoked one of the greatest health crises of our time, which is why risk stratification at the time of hospitalization is essential to identify in good time patients with high morbidity and mortality risk. Dysnatremia as an independent predictor of mortality in patients with COVID-19 has recently become relevant. Objective: To find out if there is an association of dysnatremia with 28-day mortality, and as secondary objectives, its association with hospital stay, invasive mechanical ventilation (IMV) requirement and presence of acute kidney injury (AKI) during hospital stay. Material and methods: Retrospective, descriptive and analytical cohort study. All consecutive patients of 16 years or older of any gender, admitted to a third level hospital from March 1, 2020 to March 2021, who have a diagnosis of COVID-19 with positive PCR were included. Results: The study included a total of 722 patients. The prevalence of dysnatremia was as follows: 18 patients presented hypernatremia (2.49%) and 153 hyponatremia (21.19%). The presence of hypernatremia once sodium was corrected for glucose was associated with higher mortality (p < 0.05, OR 3.446; 95% CI 1.776-6.688), an increased probability of presenting AKI (p <0.05, OR 2.985; 95% CI 1.718-5.184) and a greater requirement for IMV (p < 0.05, OR 1.945; 95% CI 1.701-5.098). Conclusions: Hypernatremia was associated with higher mortality, higher risk of presenting AKI and the requirement for IMV during hospitalization.

Introducción: la enfermedad por coronavirus 2019 (COVID-19) ha provocado una de las mayores crisis sanitarias de nuestros tiempos, por lo que la estratificación pronóstica al momento de la hospitalización es fundamental para identificar de manera temprana a los pacientes con alto riesgo de morbimortalidad. La disnatremia como predictor independiente de mortalidad en pacientes con COVID-19 ha tomado relevancia recientemente. Objetivo: encontrar si existe asociación de disnatremias con mortalidad a 28 días y como secundarios su asociación con estancia hospitalaria, requerimiento de ventilación mecánica invasiva (VMI) y presencia de lesión renal aguda (LRA) durante la estancia hospitalaria. Material y métodos: estudio de tipo cohorte retrospectivo, descriptivo y analítico. Se incluyeron de manera consecutiva todos los pacientes mayores de 16 años de cualquier género, ingresados en un hospital de tercer nivel de marzo de 2020 a marzo de 2021, los cuales presentaron diagnóstico de COVID-19 con PCR positiva. Resultados: el estudio incluyó un total de 722 pacientes. La prevalencia de disnatremia fue la siguiente: 18 pacientes presentaron hipernatremia (2.49%) y 153 hiponatremia (21.19%). La presencia de hipernatremia una vez corregido el sodio para la glucosa se asoció con mayor mortalidad (p < 0.05, RM 3.446; IC 95%, 1.776-6.688), un aumento de la probabilidad de presentar LRA (p < 0.05, RM 2.985; IC 95%, 1.718-5.184) y mayor requerimiento de VMI (p < 0.05, RM 1.945; IC 95%, 1.701-5.098). Conclusiones: la hipernatremia se asoció a una mayor mortalidad, mayor riesgo de presentar LRA y requerimiento de VMI durante la hospitalización.

Primary adipsia and severe hypernatremia in a Pit Bull dog / Adipsia primária e hipernatremia severa em um cão Pit Bull

Primary adipsia is a rare condition in which there is failure in the activation threshold of the hypothalamic osmoreceptors, leading to osmolality imbalance. Here, we reported the case of a Pit Bull dog with an altered level of consciousness (started after weaning) and adipsia. There was an increase in plasma osmolality (444 mOsm/kg), sodium (223.7 mg/dL), and chlorine (173 mg/dL) levels. Based on the suspicion of primary adipsia, water was administered via a nasogastric tube, with clinical improvement. The owner was instructed to supply water with food. Eight months after discharge, the dog returned with parvovirus and died. In the anatomopathological examination, no structural changes were observed in the central nervous system. To our knowledge, this is the first report of hypernatremia due to adipsia in a Pit Bull dog, showing that this is a differential diagnosis that should be considered in this breed.

Adipsia primária é uma rara condição em que há falha no limiar de ativação dos osmoreceptores hipotalâmicos, levando ao desequilíbrio da osmolalidade. Este artigo tem como objetivo relatar o caso de um cão da raça Pit Bull apresentando alteração no nível de consciência (iniciado após o desmame) e adipsia. Foi verificado aumento da osmolalidade plasmática (444 mOsm/kg), sódio (223,7 mg/dL) e cloro (173 mg/dL). Baseado na suspeita de adipsia primária, iniciou-se administração de água via sonda nasogástrica, com melhora clínica. O tutor foi orientado a fornecer água junto a alimentação. Oito meses após alta, o paciente retornou com parvovirose e veio a óbito. No exame anatomopatológico, não foram observadas alterações estruturais no sistema nervoso central. Este é o primeiro relato de hipernatremia por adipsia em um cão Pit Bull, mostrando que este é um diagnóstico diferencial que deve ser considerado nesta raça.

COVID-19: hypernatremia is a significant predictor of mortality

Introduction: Coronavirus disease 2019 (COVID-19) pandemic spread rapidly, creating a worrisome scenario worldwide. In hospitalized patients, dysnatremia (hyponatremia and/or hypernatremia) is the most common electrolyte disturbance, reported in 30­40% of cases and associated with a poor prognosis. This study aimed to evaluate the association between dysnatremia and mortality in hospitalized patients infected with SARS-COV-2. Methods: Retrospective longitudinal study that analyzed data from hospital records of 1,000 patients with COVID-19 (median age, 62.5 years; 57.1% men), including 109 (10.9%) deaths. Kaplan-Meier survival curves and Cox proportional hazard models with Hazard Ratio (HR) with 95% confidence intervals (95%CI) were applied to confirm the association between dysnatremia (hyponatremia and/or hypernatremia) and death. Results: Hypernatremia was detected in 83 (76.1%) of the patients who died, with a cumulative reduction in survival (p < 0.01) and a 2.42-fold increased mortality risk (95%CI: 1.45­2.91). In the multivariable analysis, hypernatremia was the main factor associated with increased mortality (HR: 1.50; 95%CI: 1.23­1.81). Long length of stay (LOS) (HR: 1.54; 95%CI: 1.21­1.78), old age (HR: 1.63; 95%CI: 1.28­1.88), and chronic kidney disease (HR: 1.77; 95%CI: 1.21­3.30) were also associated with death. Conclusion: Hypernatremia during hospitalization is an important risk factor for poor prognosis and an increased mortality risk. LOS, old age, and chronic kidney disease could also be used for risk stratification in patients with COVID-19.

Safety and tolerance of enteral nutrition in COVID-19 critically ill patients, a retrospective study.

BACKGROUND: There is a lack of evidence about the tolerance of enteral nutrition (EN) in COVID-19 critically ill patients. However, several gastrointestinal manifestations related to COVID-19 have been described. The aims of this study were to analyze the incidence of gastrointestinal intolerance (GI) associated to EN (diarrhea, vomiting, gastroparesis and constipation) and to describe energy/protein provision along with biochemical alterations during the first week of EN. METHODS: A retrospective cohort of COVID-19 critically ill patients under mechanical ventilation. We reported daily enteral nutrition infusion and gastrointestinal manifestations within the first week of intubation and enteral nutrition initiation. RESULTS: Fifty-two patients were included; 40.3% were overweight and 46.2% were obese. During the first 7 days of EN, manifestations of GI intolerance such as vomiting, diarrhea and gastroparesis were present in 18 patients (32.4%). Hypernatremia (39%) was the most frequent electrolyte abnormality. Only Acute Kidney Injury (AKI) diagnosis was associated with a higher energy deficit on day 7. No associations between drug prescription and GI intolerance were observed. On day 4, 94.5% of patients were receiving more than 80% of energy requirements and 94.2% of protein requirements. Accumulated energy and protein deficits at day 3 were 2171.2 ± 945 kcal and 114.9 ± 49.2 g, respectively; and 2586.4 ± 1151 kcal, 133.3 ± 60.4 g at day 7. CONCLUSION: Enteral nutrition is feasible and well-tolerated in COVID-19 patients with mechanical ventilation within the first week of enteral nutrition initiation. More studies are needed to elucidate the impact of nutritional therapy on infection course and outcomes.

Hypernatremic Dehydration in Breast Fed Infants: Lessons from a Baby-Friendly Hospital.

AIM: To determine the incidence, presentation and outcome of all neonates admitted to the University Hospital of the West Indies with a diagnosis of breastfeeding associated hypernatremic dehydration during a 15-year period and make comparisons with an earlier study done at the institution. METHODS: A retrospective review of the files of neonates admitted to the neonatal unit with breastfeeding associated hypernatremic dehydration between January 2002 and December 2016 was conducted. Data on maternal and neonatal demographics, presentation, laboratory results and outcome were extracted and descriptive analyses performed. Statistical significance was taken at the level p < 0.05. RESULTS: Eighty neonates were entered into the study, 79 were inborn giving an incidence of 2.5 per 1000 live births. Fifty-five (71%) mothers were primiparous, with a mean ± SD age of 29.5 ± 5.6 years and mean ± SD length of hospital stay 2.6 ± 1.5 days. Fifty-six (71%) neonates were exclusively breastfed with a mean ± SD age at presentation of 5.6 ± 3.8 days, mean ± SD percentage weight loss of 16.3% ± 6.1% and a mean serum ± SD sodium of 156.1 ± 8.3 mmol/l. Fifty-four (68%) neonates were admitted from home and 22 (28%) from the postnatal ward. Complications seen included acute kidney injury 6 (8%), seizures 2 (3%), hypotonia 1 (1%) and bradycardia 1 (1%). The neonates were detected earlier, presented with a significantly lower mean serum sodium, urea and creatinine (p < 0.05), had less severe complications and no deaths compared with neonates in the previous study. CONCLUSION: Early intervention can make a positive impact on the severity and complications of breastfeeding associated hypernatremia.

Caracterización de recién nacidos a término con deshidratación hipernatrémica / Characterization of full term newborns with hypernatremic dehydration

INTRODUCCIÓN: La deshidratación hipernatrémica neonatal es una condición grave y su incidencia se ha incre mentado en los últimos años, repercutiendo en complicaciones que llevan a la hospitalización del recién nacido. OBJETIVO: Describir las características clínicas y de laboratorio de recién nacidos a término con diagnóstico de deshidratación hipernatremica. PACIENTES Y MÉTODO: Estudio observacional descriptivo de recién nacidos a término que se hospitalizaron por deshidratación hiperna trémica entre los años 2014 y 2016. Se incluyeron recién nacidos a término mayores de 37 semanas con signos clínicos de deshidratación (mucosas secas, fontanela deprimida, llanto sin lágrimas, signos de pliegue cutáneo) y/o pérdida excesiva de peso mayor de 7% y sodio sérico mayor a 145 mEq/L. Se registraron variables sociodemográficas y bioquímicas para su análisis. RESULTADOS: Se incluyeron 43 neonatos. El 60,5% de sus madres fueron primigestantes, el 90% de los neonatos recibieron lactancia materna exclusiva, las madres reportaron problemas en la lactancia materna en el 76,7%. La pérdida de peso al ingreso con respecto al peso de nacimiento fue de 15,3% en promedio. El 83,3% contaba con seguro de salud público. 65,1% presentó signos clínicos de deshidra tación al ingreso y 83,5% signos neurológicos transitorios. El promedio de sodio fue de 155 mEq/L al ingreso. El descenso de sodio en las primeras 24 horas de manejo fue 7,74 mEq/L (0,32mEq/L por hora). La corrección de la hipernatremia fue en el 55,8% por vía oral y la estancia hospitalaria de 4 días en promedio. CONCLUSIONES: Los problemas de alimentación se presentaron en un (76%) madres primigestantes en un (88,4%). El 90,6% de esta población administraban lactancia materna exclusiva, resultados que pueden contribuir para alertar al profesional de la salud a identificar de forma oportuna, signos de alarma y un control precoz posterior al alta del puerperio y a la toma de medidas preventivas.

INTRODUCTION: The hypernatremic neonatal dehydration is a severe condition whose incidence has increased in recent years resulting in complications leading to the hospitalization of the newborn. OBJECTIVE: Describe the clinical and laboratory characteristics of term-newborns with Hypernatremic Dehy dration diagnosis. PATIENTS AND METHOD: Descriptive observational study of hospitalized term- newborns due to hypernatremic dehydration between a period from 2014 to 2016. Term newborns over 37 weeks with clinical signs of dehydration (dry mucous membranes, depressed fontanel, tear less crying, signs of the cutaneous pleat), and/or excessive weight loss greater than 7% and serum sodium greater than 145 mEq/L were included. Sociodemographic and biochemical variables were recorded for analysis. RESULTS: 43 neonates were included. 60.5 percent of their mothers were pri- miparous, 90 percent of neonates received exclusive breastfeeding, mothers reported breastfeeding problems in 76.7 percent. Incoming neonates reported weight loss compared to birth weight at 15.3% on average. 83.3% had public health insurance. 65.1% had dehydration clinical signs at entry and 83.5% transient neurological signs. The average sodium was 155 mEq/L at revenue. The sodium decrease in the first 24 hours of handling was 7.74 mEq/L (0.32mEq/L per hour). The correction of the hypernatremia was 55.8% by oral intake and 4 days hospital stay on average. CONCLUSIONS: The feeding's problems came up in a (76%), primiparous mothers in an (88.4%). 90.6 percent of this population administered exclusive breastfeeding, results that can help to alert the health professional to timely identification, warning signs, and early post-discharge control and preventive measures.

Hipodermóclise para correção de desidratação hiperosmolar e distúrbios eletrolíticos graves: relato de caso / Hypodermoclysis for correction of hyperosmolar dehydration and severe electrolyte disturbances: a case report

O tratamento de desidratação e distúrbios eletrolíticos graves é contraindicado por meio de hipodermóclise, mas o nível de evidência da recomendação se baseia na opinião de especialistas. Descreve-se caso clínico de paciente com idade avançada, com indicação de cuidados paliativos, que evoluiu com desidratação hiperosmolar com hipernatremia grave, injúria renal aguda e hipercalemia. Tratou-se a paciente com solução hipotônica por meio da técnica de hipodermóclise, com resolução completa do quadro. Conclui-se que há necessidade de mais estudos sobre o uso da hipodermóclise para o tratamento de distúrbios hidroeletrolíticos graves.

The treatment of dehydration and severe electrolyte disturbances using hypodermoclysis is usually contraindicated, but the level of evidence for its recommendation is based on expert opinion. This case report describes an older patient receiving palliative care who developed hyperosmolar dehydration with severe hypernatremia, acute kidney injury, and hyperkalemia. She was treated with hypodermoclysis using a hypotonic solution, which led to complete resolution of the condition. In conclusion, further studies on the use of hypodermoclysis for the treatment of severe hydroelectrolytic disorders are needed.

Manejo de deshidratación con alteración del sodio en pacientes pediátricos / Management of dehydration with sodium alteration in pediatric patients

Los cuadros de deshidratación son frecuentes en pediatría, muchos de ellos acompañados de alteraciones electrolíticas. La deshidratación asociada a trastornos del sodio puede implicar riesgos para la salud de los pacientes pediátricos tanto en el desarrollo del cuadro como en su tratamiento. Objetivo: crear un algoritmo de manejo de los cuadros de deshidratación asociados a lateraciones del sodio para manejo de pacientes pediátricos. Métodos: se realizó revisión de la literatura disponible sobre deshidratación con hiper e hiponatremia, en inglés y español, incluyendo libros y artículos de revistas. Se presenta en el actual documento los aspectos básicos sobre la fisiopatología de la deshidratación asociada a trastornos del sodio, su clínica, diagnóstico y manejo detallado, para el uso en la práctica clínica diaria.

Dehydration is common in pediatric patients, frequently accompanied with electrolite disturbances. Dehydration associated with sodium disturbances can involve risk for pediatric patient health during the development of the disease and during its treatment. Objective: to create an algorithm of management of dehydration with sodium disturbances in pediatric patients. Methods: review of literature about dehydration with hypernatremia and hyponatremia, in english and spanish, including books and published articles. We present in this document the basic aspects of physiopathology of dehydration with sodium disturbances, clinical presentation, diagnosis and detailed management, so it can be consulted for clinical practice.

The role of urea-induced osmotic diuresis and hypernatremia in a critically ill patient: case report and literature review / O papel da diurese osmótica induzida por ureia na geração de hipernatremia no paciente crítico: relato de caso e revisão da literatura

Abstract Hypernatremia is a common electrolyte problem at the intensive care setting, with a prevalence that can reach up to 25%. It is associated with a longer hospital stay and is an independent risk factor for mortality. We report a case of hypernatremia of multifactorial origin in the intensive care setting, emphasizing the role of osmotic diuresis due to excessive urea generation, an underdiagnosed and a not well-known cause of hypernatremia. This scenario may occur in patients using high doses of corticosteroids, with gastrointestinal bleeding, under diets and hyperprotein supplements, and with hypercatabolism, especially during the recovery phase of renal injury. Through the present teaching case, we discuss a clinical approach to the diagnosis of urea-induced osmotic diuresis and hypernatremia, highlighting the utility of the electrolyte-free water clearance concept in understanding the development of hypernatremia.

Resumo A hipernatremia é um distúrbio eletrolítico comum no ambiente de terapia intensiva, com uma prevalência que pode chegar a 25%. Está associada a maior tempo de internação hospitalar e é um fator de risco independente para a mortalidade. Este relato ilustra um caso de hipernatremia de origem multifatorial no ambiente de terapia intensiva. Destacaremos o papel da diurese osmótica por geração excessiva de ureia, uma causa de hipernatremia pouco conhecida e subdiagnosticada. Este cenário pode estar presente em pacientes em uso de elevadas doses de corticoides, com sangramento gastrointestinal, em uso de dietas e suplementos hiperproteicos e estado de hipercatabolismo, especialmente durante a fase de recuperação de injúria renal. A seguir, discutiremos uma abordagem clínica para o diagnóstico da hipernatremia secundária à diurese osmótica induzida por ureia, destacando a importância do conceito de clearance de água livre de eletrólitos nesse contexto.

The role of urea-induced osmotic diuresis and hypernatremia in a critically ill patient: case report and literature review.

Hypernatremia is a common electrolyte problem at the intensive care setting, with a prevalence that can reach up to 25%. It is associated with a longer hospital stay and is an independent risk factor for mortality. We report a case of hypernatremia of multifactorial origin in the intensive care setting, emphasizing the role of osmotic diuresis due to excessive urea generation, an underdiagnosed and a not well-known cause of hypernatremia. This scenario may occur in patients using high doses of corticosteroids, with gastrointestinal bleeding, under diets and hyperprotein supplements, and with hypercatabolism, especially during the recovery phase of renal injury. Through the present teaching case, we discuss a clinical approach to the diagnosis of urea-induced osmotic diuresis and hypernatremia, highlighting the utility of the electrolyte-free water clearance concept in understanding the development of hypernatremia.

Nasal fistula, epidermal cyst and hypernatremia in a girl presenting holoprosencephaly due to a rare ZIC2 point mutation.

Holoprosencephaly is the most common brain malformation in humans and it is a complex genetic disorder. We report on a patient with holoprosencephaly caused by a rare ZIC2 mutation presenting a bifid nose associated with a nasal fistula and an epidermal cyst, besides hypernatremia. The patient was a 1 year and 4 months old girl that developed an important neuropsychomotor delay. Currently, she uses a wheelchair to move around and only emits sounds. Computed tomography (CT) scan revealed a semilobar holoprosencephaly and a Dandy-Walker variant. Head magnetic resonance imaging also disclosed corpus callosum agenesis and prefrontal subarachnoid space enlargement. On physical examination at 1 year and 4 months of age, we verified growth retardation, microcephaly, bilateral epicantic fold, upslanting palpebral fissures, bifid nose, and limbs spasticity secondary to hypertonia. Later, she began to present hypernatremia; however, its precise cause was not identified. At 6 years and 10 months of age, a nasal fistula was suspected. Facial CT scan showed an epidermal cyst at cartilaginous portion of the nasal septum. High resolution GTG-Banding karyotype was normal. However, molecular analysis through direct sequencing technique showed a mutation at regulatory region of the ZIC2 gene: c.1599*954T > A, a genetic variation previously described only in a Brazilian patient. Our patient presented findings still not reported in literature among patients with holoprosencephaly, including those with ZIC2 mutations. Thus, the spectrum of abnormalities associated to ZIC2 mutations may be broader and include other defects as those observed in our patient.