Abstract
Background Infantile myofibromatosis (IM) is a rare benign tumour of infancy. Most cases of infantile myofibromatosis are believed to occur spontaneously and without a known family history of the disorder.
Objectives The objective of this case report is to highlight this rare disorder and its unusual presentation in neonatal period.
Methods A female term baby was born through an uneventful delivery with birth weight of 3.6 kg and did not need any neonatal resuscitation. Antenatal history was unremarkable except for high maternal BMI. There was no history of consanguinity. There was history of sarcoidosis in Dad.
Baby was noted to have bilious vomiting at 12 hours of life. On examination the observations were stable. There was no dysmorphology, but a fleshy pink peanut sized mass was noted arising from the left auditory canal completely occluding the external auditory meatus and a small soft mass on the pinna. Her abdomen was soft with no obvious distension; bowel sounds were hyperactive. The anal opening was patent. There was fresh blood in the nappy. There was minimal clear nasogastric aspirate and there were flecks of green meconium in the aspirate on gastric washout with saline. The abdominal x ray showed prominent gaseous bowel loops with paucity of gas in the rectum. Rest of the general and systemic examination was unremarkable. She was kept nil by mouth with nasogastric tube on free drainage and was commenced on intravenous antibiotics after screening for sepsis. The baby was transferred to the tertiary center for urgent surgical evaluation and management in view of the bilious vomiting.
Results At the tertiary center, contrast studies confirmed Malrotation. Laparotomy showed malrotation with ileocolic intussusception. Multiple nodules found in gut lining and masses noted adjacent to the ovaries bilaterally. Further imaging – whole body MRI/CT chest and abdomen/pelvis/Echocardiogram showed multiple lesions involving various organs. Histopathology and immunohistochemistry confirmed myofibromatosis. Currently this child is being treated with chemotherapy.
Conclusions Our case presented with unusual findings which had a common link. Infantile myofibromas can present with solitary or multiple nodules (firm flesh coloured to pink) and are often present at birth. At first the isolated mass in the ear canal and the bilious vomiting were thought to be separate problems. However as this case was subsequently investigated we learnt that the visceral myofibromas were responsible for the intussusception.
This form of infantile myofibromatosis can cause severe, life-threatening complications depending upon the location of the lesion and the specific organs involved. MRI and ultrasounds are useful adjuncts to gain more information about the extent of these tumours however, histopathology remains the gold standard for the diagnosis of this condition. In the majority of cases, which lack visceral involvement, prognosis is excellent and spontaneous regression is often observed. On the other hand, the presence of visceral lesions is associated with a significantly poor outcomes in the absence of therapy.
