A Neonate With Abnormal Facial Expression and Feeding Difficulty

A term male neonate presented on day 14 of life with a 6-day history of feeding difficulty and body stiffness. He was delivered vaginally at home by an untrained birth attendant to a 23-year-old primigravida mother. The pregnancy was unbooked and unsupervised. There was no history of fever, rash, or lymphadenopathy during the first trimester. The mother received iron and folic acid supplementation during the second and third trimesters. There was no history of per vaginal bleeding or leaking during pregnancy. She had no significant medical or obstetric illnesses and did not receive tetanus toxoid or any other vaccinations during pregnancy. There was also no history of drug use, including opioids, during the antenatal period.The baby cried immediately after birth, and the umbilical cord was tied using a thread. He was initiated on exclusive breastfeeding from birth. From day 8 of life, the mother noticed difficulty in breastfeeding, inability to open the mouth, and intermittent episodes of body stiffness.At the time of admission, the neonate was irritable with intermittent posturing and spasms. He was euthermic and euglycemic, with a heart rate of 156 beats per minute, respiratory rate of 52 breaths per minute, and oxygen saturation of 93% on room air. Head-to-toe examination revealed no facial dysmorphism, jaundice, rash, or neurocutaneous markers. However, the baby exhibited a characteristic facial expression (Figure 1) and opisthotonus posture (Figure 2). He was conscious, with increased muscle tone in all 4 limbs and exaggerated deep tendon reflexes. The admission weight was 3200 g.Initial management focused on stabilization, including minimal handling, respiratory support, and control of persistent spasms. The baby was nursed in a closed incubator under strict minimal stimulation limiting tactile, auditory, and visual stimuli. Supportive care included thermoregulation, management of oral secretions, and bladder and bowel care.Investigations for sepsis and meningitis, including complete blood count, C-reactive protein, blood culture, and cerebrospinal fluid analysis, were within normal limits. Neurosonography was normal. Blood glucose, serum electrolytes, liver and renal function tests, serum ammonia, and lactate levels were all within normal ranges. Bedside amplitude-integrated electroencephalogram revealed a continuous normal voltage pattern.Because of persistent spasms, the airway was secured, and the baby was intubated and mechanically ventilated on synchronized intermittent mandatory ventilation mode. The ventilator settings included a mean airway pressure of 8 cm H2O, FiO2 of 0.21, and a respiratory rate of 40 breaths per minute.This term neonate was delivered at home following an unsupervised pregnancy without any antenatal immunization. The delivery was conducted by an untrained birth attendant, and a thread was used to tie the umbilical cord. Subsequently, the baby developed intermittent posturing and spasms. Based on these clinical features, the following differential diagnoses were considered: Neonatal tetanus: The most likely diagnosis, given the absence of maternal tetanus toxoid immunization, delivery by an untrained attendant, and improper umbilical cord care (use of a thread as a clamp). The presence of feeding difficulty, intermittent posturing, spasms, and a characteristic facial grimace are classic features of neonatal tetanus.Hypocalcemia and hypomagnesemia: These electrolyte disturbances can cause neuromuscular irritability and spasms. However, serum calcium (both total and ionized) and serum magnesium levels were within normal limits, ruling out this possibility.Central nervous system (CNS) infection: CNS infections such as meningitis or encephalitis can present with irritability, abnormal posturing, and seizures. In this case, cerebrospinal fluid analysis was normal, there was no history of seizures, and neurosonography was unremarkable, making a CNS infection unlikely.Perinatal asphyxia: There was no history of delayed cry or seizure episode, thus making perinatal asphyxia less likely.Intracranial hemorrhage: Although possible in term infants, especially in cases of arteriovenous malformations, it usually presents with severe encephalopathy, seizures, and features of raised intracranial pressure. These were absent in this case.Neonatal abstinence syndrome: Withdrawal symptoms from intrauterine drug exposure, especially opioids, can include hypertonia, tremors, irritability, and excessive crying. However, there was no maternal history of drug use, including opioids, making this diagnosis unlikely.Hyperekplexia: A rare genetic disorder characterized by exaggerated startle responses, hypertonia, and transient stiffness, typically apparent from birth. However, hypertonia in hyperekplexia is typically stimulus-induced and improves during sleep. The clinical features in this case were not consistent with hyperekplexia.Acute bilirubin encephalopathy (ABE): It classically presents with lethargy, hypotonia followed by hypertonia, retrocollis, and opisthotonus in the setting of severe hyperbilirubinemia. There was no history of significant jaundice or need for phototherapy or exchange transfusion, making ABE unlikely.Neurometabolic disorder: There was absence of symptoms such as feeding intolerance, vomiting, diarrhea, or seizures along with normal serum ammonia and lactate levels, thereby ruling out possibility of metabolic disorder.Congenital myotonia: This group of genetic disorders is characterized by delayed relaxation of muscles after contraction, leading to stiffness and hypertonia. Conditions such as Schwartz–Jampel syndrome, hereditary hypertonia (Isaac syndrome), and paramyotonia congenita may present similarly. However, the absence of consistent myotonic features, family history, or characteristic facial and skeletal findings makes this diagnosis less likely.The baby was initiated on intravenous midazolam infusion at a rate of 1 μg/kg/min for sedation and diazepam infusion at 25 mg/kg/d for control of spasms, along with intravenous phenobarbitone at 5 mg/kg/d. Because of persistent spasms and posturing, a continuous infusion of magnesium sulfate at 50 mg/kg/d was administered during the first 24 hours of admission.Given the high clinical suspicion of neonatal tetanus based on home delivery by an untrained birth attendant, use of an unclean thread to tie the umbilical cord, and the characteristic clinical features, the baby was administered 2 doses of tetanus immunoglobulin (TIG). Empirical antibiotic therapy was initiated with intravenous cefotaxime and metronidazole.As the baby’s condition gradually improved, with reduction in posturing and spasms, the diazepam infusion was tapered and discontinued by 72 hours of admission. The midazolam infusion was continued for a total of 120 hours and was gradually tapered and stopped by day 8 of admission. Enteral diazepam was then initiated at 20 mg/kg/d, along with continued phenobarbitone at 5 mg/kg/d.The baby was successfully weaned from mechanical ventilation to noninvasive positive pressure ventilation (NIPPV) after 7 days of admission, once spasms had significantly subsided. NIPPV was continued for an additional 10 days. The baby received intravenous antibiotics for a total of 14 days. Both diazepam and phenobarbitone were gradually tapered and stopped by day 24 of admission.Initially, the infant was fed via an orogastric tube; however, by day 18 of admission, he was able to transition to direct breastfeeding. The baby was discharged after 26 days of hospital stay. At discharge, anthropometric measurements were as follows: weight 3800 g (10th-50th percentile), length 49 cm (<3rd percentile), and occipitofrontal circumference 35 cm (3rd-10th percentile).A diagnosis of neonatal tetanus was made based on antenatal and perinatal history in conjunction with the characteristic clinical presentation.Neonates presenting with hypertonia, stiffness, and spasms may live with CNS disorders, spinal cord pathologic, or peripheral neuromuscular conditions. A thorough history from the parents and detailed physical examination are essential for reaching an accurate diagnosis.1Tetanus is caused by Clostridium tetani, a thin, gram-positive, motile, nonencapsulated, obligate anaerobic bacillus that exists in both vegetative and spore forms.2,3 In neonates, the most common portal of entry is the unhealed umbilical stump, particularly when the cord is cut with unsterile instruments or tied with unclean materials.4 Neonatal tetanus remains a significant cause of mortality in under immunized populations and following unhygienic deliveries, particularly in low-income countries.5Vaccination has significantly reduced the global burden of neonatal tetanus. According to the World Health Organization (WHO), neonatal tetanus caused approximately 25 000 deaths in 2018—a 97% reduction compared with 1988—primarily because of widespread maternal tetanus toxoid immunization.6 Although tetanus cannot be eradicated because of the ubiquitous presence of its spores in the environment, it can be eliminated as a public health problem through immunization, hygienic delivery practices, and proper cord care. India achieved maternal and neonatal tetanus elimination status in 2015,7 although sporadic cases still occur and the disease remains notifiable. We report such a case from India, in which a neonate presented with clinical features of tetanus on the 8th day of life.Typical symptoms of neonatal tetanus include feeding difficulty, excessive crying, decreased spontaneous movement, risus sardonicus (a fixed grimace), hypersensitivity to stimuli, and generalized spasms with or without opisthotonus.8 Our patient presented with a similar clinical pattern. Recent literature includes case reports by Hajaj et al from Morocco and Bacha et al from Ethiopia in 2024, further highlighting that neonatal tetanus remains a current global concern.8,9The diagnosis of neonatal tetanus is primarily clinical. Laboratory investigations play a limited role. The presence of classic clinical features in the context of absent maternal immunization and unhygienic cord care strongly supports the diagnosis. Although umbilical stump infection is a common entry point, visible signs of infection may not always be present.10The clinical manifestations of neonatal tetanus can mimic seizures. But, unlike seizures, consciousness is typically preserved in tetanus. Differential diagnoses include meningitis, hypocalcemia, hypoglycemia, and other conditions such as cerebral malformations, perinatal asphyxia, intracranial hemorrhage, and metabolic disorders.11,12 In our case, alternative diagnoses were systematically ruled out based on normal electrolytes, absence of sepsis and meningitis, normal neurosonogram, and lack of supportive history for other conditions.Management of neonatal tetanus is primarily supportive, with minimal handling to prevent stimulus-induced spasms. Treatment includes administration of TIG and wound care.3 When benzodiazepines alone fail to control spasms, neuromuscular blockade and mechanical ventilation may be necessary13 to manage respiratory muscle involvement, which is a major cause of mortality. Magnesium sulfate is also beneficial for muscle relaxation, control of autonomic dysfunction, and vasodilation.14Other important treatment components include eradication of C. tetani through broad-spectrum antibiotics, umbilical stump care, and wound debridement. Although penicillin was traditionally used, metronidazole has proven equally effective with a lower associated fatality rate.15,16 TIG remains the most effective therapy for neutralizing circulating tetanospasmin.17Our patient was managed with benzodiazepines, magnesium sulfate, TIG, and metronidazole. As penicillin G was unavailable, intravenous cefotaxime was used as an alternative.Prognosis depends largely on the incubation period and the interval between symptom onset and first spasm. Shorter intervals are associated with greater disease severity and higher mortality.18 Reported mortality rates for neonatal tetanus range from 80% to 100%, particularly among infants of unvaccinated mothers and in settings with poor delivery hygiene.19Prevention is the cornerstone of neonatal tetanus control. This includes universal maternal immunization, clean delivery practices, and appropriate neonatal care. Despite the disease’s high mortality, timely and aggressive management can significantly improve outcomes.A detailed history and physical examination are crucial for diagnosing neonates presenting with hypertonia and spasms.Neonatal tetanus is still a significant cause of mortality in developing countries.Inadequate maternal immunization and unclean delivery practices are major reasons.Risus sardonicus is characteristic clinical sign of neonatal tetanus.American Board of Pediatrics Neonatal-Perinatal Content SpecificationUnderstand disorders involving the fetus/newborn infant.Recognize issues related to infectious diseases.Understand vaccine/immunization in the neonatal intensive care unit.