Introduction. Vomiting is often encountered in paediatric pathology (gastrointestinal, neurologic, psychiatric and renal disorders). This symptom can be the first clinical manifestation in a broad spectrum of disorders, that range from mild to severe, life-threatening illnesses. Case report. We report the case of a 17-month-old male child who was transferred to our hospital for vomiting (three episodes) and loss of appetite. He was hospitalised before for similar symptoms, but with diarrhoea, which was then interpreted as acute gastroenteritis. The mother mentioned that the vomiting episodes occurred more often in the morning, on an empty stomach. We excluded gastrointestinal, metabolic and renal disorders, and we suspected an intracranial expansive process, which was also considered by the neurologist. Therefore, emergency head CT and MRI gadolinium contrast were performed and managed to reveal a large heterogeneous tumour (7/6/6 cm) of the left lateral ventricle, with mass effect and perilesional oedema. The immunohistological analysis established the diagnosis of atypical teratoid/rhabdoid tumor (ATRT), WHO grade IV. The patient was transferred for the initiation of specific oncologic and surgical treatment. Conclusions. Vomiting could be misdiagnosed as a self-limited condition, leading to delayed diagnosis and inappropriate treatment. Further attention should be given to the initial presentation, in oreder to recognize the serious conditions, such as intestinal obstruction or increased intracranial pressure, for which immediate intervention is required.
Introducere. Vărsăturile sunt adesea întâlnite în patologia pediatrică (afecţiuni gastrointestinale, neurologice, psihiatrice şi renale). Acest simptom poate reprezenta prima manifestare clinică într-un spectru larg de afecţiuni, care variază de la unele uşoare până la altele grave, ce pot pune viaţa copilului în pericol. Prezentare de caz. Prezentăm cazul unui băieţel în vârstă de 17 luni care a fost transferat în spitalul nostru pentru vărsături (trei episoade) şi pierderea apetitului. El a fost spitalizat anterior pentru simptome similare, însă, fiind asociate cu diaree, au fost interpretate ca gastroenterită acută. Mama a menţionat că episoadele de vărsături apar mai des dimineaţa, pe stomacul gol. Am exclus tulburările gastrointestinale, metabolice şi renale şi am suspectat un proces expansiv intracranian, suspiciune confirmată şi de neurolog. Prin urmare, s-au efectuat de urgenţă CT şi RMN cranian cu contrast şi s-a evidenţiat o tumoră heterogenă mare (7/6/6 cm) a ventriculului lateral stâng, cu efect de masă şi edem perilezional. Analiza imunohistologică a stabilit diagnosticul de tumoră teratoidă/rabdoidă atipică (ATRT), stadiul IV. Pacientul a fost transferat pentru iniţierea tratamentului oncologic şi chirurgical specific. Concluzie. Vărsăturile pot fi interpretate greşit ca fiind în cadrul unor afecţiuni autolimitante, ceea ce duce la întârzierea diagnosticului şi la un tratament necorespunzător. Trebuie acordată o atenţie suplimentară consultului iniţial, pentru a recunoaşte afecţiunile grave, cum ar fi obstrucţia intestinală sau hipertensiunea intracraniană, în care este necesară o intervenţie imediată.
Vomiting is a common symptom in the paediatric population. This clinical manifestation can be encountered in a broad spectrum of pathologies, that include gastrointestinal, neurologic, psychiatric and renal disorders. The symptoms vary from mild to severe, life-threatening illnesses.
If we refer to gastrointestinal pathology, the most common entities that associate vomiting in children are uncomplicated gastroesophageal reflux, gastroenteritis, gastroparesis, esophagitis, gastritis, hepatitis, pancreatitis, gall bladder disorders and peptic ulcer disease. The surgical etiologies include foreign bodies, infantile hypertrophic pyloric stenosis, appendicitis, intussusception, indirect inguinal hernia and volvulus.
Vomiting can also be the presenting symptom in serious conditions such as central nervous system (CNS) disorders (meningitis, encephalitis, intracranial tumours, cerebral oedema), diabetes mellitus, pyelonephritis, and intraabdominal infections. These illnesses can also associate other clinical signs which include weight loss, bulging fontanelle, headache, altered consciousness, seizures, or focal neurologic symptoms(1).
Emesis can be the first sign of illness in intracranial hypertension and cerebral oedema, disorders that can associate brain tumours. Atypical teratoid/rhabdoid tumours of the central nervous system account for approximately 1-2% of all paediatric brain tumors. This type of intracranial mass is a rare embryonal tumour, highly malignant, most often encountered in children younger than 3 years old. It is frequently located infratentorial, in the cerebellum or cerebellopontine angle(2). Even with valuable multiagent chemotherapy and radiotherapy, the prognosis is poor within 6-18 months of diagnosis(3).
We report the case of a 17-month-old male child who was transferred to our hospital for vomiting (three episodes per day) and loss of appetite. The vomiting episodes occurred more often in the morning, on empty stomach, lasted for a few hours on a day, separated by symptom-free periods of variable length. The child associated irritability and loss of appetite. He was hospitalised before for similar symptoms, but with diarrhoea, which was then interpreted as acute gastroenteritis.
The child was the second born to healthy non-consanguineous parents. There was no history of drug intake, radiation or chemical exposure during pregnancy or infancy. The mother had hepatitis B, with undetectable viremia in the past 6 months. The older sibling had no history of illnesses. The antenatal period was uneventful, the periodic follow-ups during pregnancy being normal. He was born by caesarean delivery at 42 weeks of gestation, weighing 3650 g (50th-85th percentile) and with length of 49 cm (50th percentile).
The physical examination at admission in our hospital revealed a child with a normal weight for age (10 kg; 15th-50th percentile), with average length (80 cm; 15th-50th percentile), frontal bossing, hypertelorism, saddle nose, micrognathia, dry lips, and abnormal skin turgor. He presented irritability and a reduced interest in playtime.
Laboratory investigations revealed hypoglycaemia and metabolic alkalosis. The levels of amino acids, ammonia, serum, and urinary organic acids were normal. Immunoglobulin E was within ranges for this age, antitransglutaminase and antiendomysium antibodies were negative. Urinary tests, urinary electrolytes, and cultures were normal. The stool examination was normal, with negative viral antigens and stool cultures. Abdominal ultrasound described no pathological images.
Considering the other associated symptoms, we suspected a neurological disorder as the cause of vomiting. The neurological examination described fine tremor of the limbs on walking and brisk reflexes in the right leg. Therefore, emergency head CT and MRI gadolinium contrast were performed and managed to reveal a large heterogeneous tumour (7/6/6 cm) of the left lateral ventricle, with mass effect and perilesional oedema. The intracranial mass had an irregular outline, solid and cystic components, calcification, and intralesional haemorrhage. The tumour presented significant enhancement in the solid component and areas of restricted diffusion. The immunohistological analysis of the biopsy established the diagnosis of atypical teratoid/rhabdoid tumour (ATRT), WHO grade IV. The patient was transferred for the initiation of specific oncologic and surgical treatment.
Vomiting is often encountered in a vast paediatric pathology (gastrointestinal, neurologic, psychiatric or renal disorders), that range from mild to severe, life-threatening illnesses. The diagnostic can be often delayed in infants and younger children(1). The most common causes of vomiting involve the digestive system, represented by uncomplicated gastroesophageal reflux, food allergy or food intolerance, mechanical obstruction, gastroparesis, duplication cysts and choledochal cysts, appendicitis, inflammatory bowel disease and many other causes(1).
Many infections can associate nausea or vomiting. Of these, the most severe are CNS infections. Meningoencephalitis is a potentially life-threatening illness that results from a bacterial or viral infection of the meninges and brain parenchyma. Besides vomiting, the symptoms accompanying this pathology include fever, headache, photophobia, poor feeding, nausea, altered mental status, seizures, motor or sensory deficits. Meticulous attention must be paid to immediate intervention in these cases because inappropriate treatment can lead to significant sequelae, increased morbidity and mortality(4).
Inborn metabolic disorders (galactosemia, urea cycle, fatty acid metabolism) can first present with vomiting episodes. Usually, these disorders are associated with other symptoms (jaundice, lethargy, altered mental status, loss of appetite). Laboratory parameters show hyperammonaemia, hypoglycaemia, or elevated lactic acid. The recognition of these pathologies is significant because the accurate treatment can be life-saving(1). Repetitive episodes of vomiting can be found in cyclic vomiting syndrome and can lead to significant deficits in fluids and electrolytes. This disorder is characterised by recurrent episodes of nausea and vomiting that last for hours to days, separated by symptom-free periods of variable length. Usually, the mean age at onset is between 4.6 and 6.9 years old, but cyclic vomiting has been observed at younger ages and in adulthood(5). Other pathologies that associate vomiting are endocrine/metabolic disorders (diabetic ketoacidosis, adrenal crisis(1), porphyria(6)), renal pathologies (nephrolithiasis, hydronephrosis, uraemia(4)), intoxications, medication side-effects or anaphylaxis, and mental illnesses. Rumination syndrome implies regurgitation and re-swallowing of food. It has been described in emotionally deprived infants. Other psychiatric disorders are usually recognized as a problem of older children and adolescents(1).
For clinicians, it is important to exclude illnesses that require immediate surgical intervention such as foreign bodies with mechanical obstruction, infantile hypertrophic pyloric stenosis, intussusception, indirect inguinal hernia, and volvulus. These disorders can present with bilious vomiting, gastrointestinal bleeding, projectile vomiting, and abdominal tenderness(4). Also, a careful examination is required for the recognition of increased intracranial pressure symptoms, which can include bulging fontanelle, vomiting in the morning, headache, seizures, focal neurologic deficits, or altered consciousness. Increased intracranial pressure is often encountered in brain neoplasms(7).
Primary malignant central nervous system tumours represent the most common solid organ tumour and the second most frequent paediatric malignancies, after hematologic malignancies. CNS tumours include gliomas, medulloblastoma, craniopharyngioma, ependymoma, germ cell tumours, intradural nerve sheath tumours, and meningioma. Other uncommon brain neoplasms include choroid plexus tumours, neuronal and neuronoglial tumours, atypical teratoid/rhabdoid tumours, ependymoblastoma, and medulloepithelioma. Even though prognosis has improved in children with CNS tumours due to surgical treatment, radiation therapy and chemotherapy, malignant brain tumours are still associated with high morbidity and mortality. Primary brain neoplasms are the leading cause of death amongst paediatric cancer, followed by acute lymphoblastic leukaemia(8).
Among brain tumours, atypical teratoid/rhabdoid tumours (ATRTs) of the central nervous system account for approximately 1-2% of all paediatric brain tumours(2) and up to 20% in children younger than 3 years old(9). At diagnosis, 15% of children may present meningeal dissemination(2). Most of them are characterised by a genetic aberration of the tumor suppressor gene SMARCB1(10). This type of tumour was reported in patients with ring chromosome 22(11). It is frequently located infratentorial (in younger patients), in the cerebellum or cerebellopontine angle, or can be located supratentorial (in older patients)(12).
Cerebral magnetic resonance imaging (MRI) can show ATRTs often of large dimensions. The cerebral mass is frequently isointense, surrounded by important peritumoral oedema, with hyperintense areas due to intratumoral haemorrhage on T1-weighted MRI. The tumour appears as a heterogeneous mass on T2-weighted and flair MRI, because of tumour’s cellularity, haemorrhage areas, necrosis, and cysts. It also presents inhomogeneous enhancement after gadolinium administration. This highly malignant intracranial mass contains rhabdoid cells, neuroectodermal, epithelial and mesenchymal elements. ATRTs can be misdiagnosed because of the radiographic and histologic similarities with medulloblastomas and primitive neuroectodermal tumours(13). The therapeutic approaches include a combination of surgery, radiotherapy and multiple chemotherapeutic protocols. The first recommendation of treatment in ATRTs is neurosurgical resection of the tumour, but it is not always possible due to tumour location, dimensions, invasion or vascularity. In these cases, it can be performed only a partial resection or biopsy(14).
In our case, we suspected an intracranial expansive process, because the patient presented recurrent vomiting on awakening, irritability, and loss of interest in playtime. The neurological examination described fine tremor of the limbs on walking and brisk reflexes in the right leg. Emergency head CT and MRI gadolinium contrast were performed and revealed a large heterogeneous tumour (7/6/6 cm) of the left lateral ventricle, with mass effect and perilesional oedema. The immunohistological analysis of the biopsy established the diagnosis of atypical teratoid/rhabdoid tumour (ATRT), WHO grade IV. Due to the tumour’s location, its large dimensions and vascularity, it was not possible to perform the complete resection of the cerebral mass. After biopsy, the patient was transferred to the oncology hospital for the initiation of chemotherapy.
Even with valuable multiagent chemotherapy and radiotherapy, the prognosis is poor within 6-18 months of diagnosis(3). A better survival can be achieved in patients with gross total resection (GTR) versus patients who underwent less than GTR. ATRTs are highly malignant tumours, invasive by nature, with only a few cases that can undergo complete resection, in less than one-third of patients. If the choice of treatment is biopsy at diagnosis, chemotherapy may improve the possibility of the complete resection of the tumour(14).
Vomiting could be misdiagnosed as a self-limited condition, leading to delayed diagnosis and inappropriate treatment. Further attention should be given at the initial presentation, to recognise serious conditions, such as increased intracranial pressure, for which immediate intervention is required. In the presence of an intracranial expansive process in a patient younger than 3 years old, ATRT should be considered, being encountered in 20% of cases. Significant progress has been achieved in the diagnosis and treatment of ATRTs in the past two decades after the condition was first described, with novel targeted agents still developing.
Conflicts of interests: The authors declare no conflict of interests.
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