Weak Cry Research Articles

Case 4: A Preterm Infant with a Necrotic Ulcer Over the Perianal Area

A 1.07-kg male infant with severe growth restriction is born at 30 weeks’ gestational age to a 36-year-old gravida 3, para 2 mother by emergency cesarean delivery for nonreassuring heart tracing. The parents are of low socioeconomic status and are first-degree consanguineous relatives. The mother received steroids and her membranes ruptured at delivery. At birth, the infant’s cord clamping was delayed, and after an initial weak cry he underwent intubation for poor respiratory efforts. Apgar scores were 4 and 7 at 1 and 5 minutes, respectively. His initial stabilization included surfactant administration, mechanical ventilation with volume guarantee, catheter line placement (umbilical venous and arterial catheters), initiation of total parenteral nutrition, antibiotics, and inotropic support. On day 3, he underwent extubation and received noninvasive intermittent positive pressure ventilation (NIPPV), inotropic support was discontinued, and antibiotics were stopped, because his blood culture was sterile. He demonstrated steady clinical improvement in the next 3 days, was weaned from NIPPV to nasal continuous positive pressure, and nasogastric feeds progressed gradually. On day 6, the bedside nurse noticed a small macule and blister with surrounding erythema over the lateral aspect of his right thigh, which progressed rapidly in hours to blackish-gray discoloration of skin in an area 4 × 1 cm in size with a small hemorrhagic lesion in the center (Fig 1). The infant’s clinical condition worsened rapidly in the next 24 hours; he became lethargic, hypothermic, tachycardic, hypotensive with poor perfusion, and apneic with increased oxygen requirement. He underwent elective reintubation for recurrent apnea and mixed respiratory and metabolic acidosis. A limited sepsis screening (complete blood cell count and cultures from blood, skin wound, and urine) was performed. Empiric antibiotic treatment with piperacillin-tazobactam was commenced. The infant received a bolus of normal saline, and dopamine treatment was commenced for low mean blood pressure. …

A 6-week-old girl with weak cry and cardiac murmur.

A 6-week-old girl with weak cry and cardiac murmur.

Clinical diversity caused by novel IGHMBP2 variants.

Immunoglobulin helicase μ-binding protein 2 (IGHMBP2) gene is responsible for Charcot-Marie-Tooth disease (CMT) type 2S and spinal muscular atrophy with respiratory distress type 1 (SMARD1). From June 2014 to December 2015, we collected 408 cases, who referred to our genetic laboratory for genetic analysis, suspected with CMT disease or other inherited peripheral neuropathies (IPNs) on the basis of clinical manifestations and electrophysiological studies. Mutation screening was performed using Ion AmpliSeq Custom Panels, which comprise 72 disease-causing or candidate genes of IPNs. We identified novel homozygous or compound heterozygous variants of IGHMBP2 in four patients. Three patients presented with childhood-onset axonal predominant sensorimotor polyneuropathies, whereas the other case was diagnosed with SMARD1, manifesting as low birth weight, weak cry, reduced spontaneous movement and developed respiratory distress 4 months after birth. We present the original report of CMT type 2S in Japan, and illustrate that recessive IGHMBP2 variants account for ~1.6% of axonal CMT in our cohort.

Neonatal Toxicity From Escitalopram Use In Utero: A Case Report

Selective serotonin reuptake inhibitor (SSRI) exposure during pregnancy can result in symptoms of serotonin syndrome or serotonin withdrawal. In contrast to other SSRIs, reports of serotonin behavioral syndrome following in utero exposure to escitalopram and citalopram are limited. We describe a case of suspected toxicity following in utero exposure to 20 mg escitalopram throughout pregnancy. The infant was transferred to our neonatal intensive unit at 9 hours of life for further evaluation of lethargy, weak cry, bradycardia, and non-reactive pupils. Hypoxic ischemic encephalopathy was suspected upon presentation, despite APGAR scores of 8 and 9. Upon admission, symptoms progressed to signs of hypertonia, irritability, high-pitched cry, and posturing. The patient was loaded with phenobarbital for empiric management of suspected seizures versus drug withdrawal. Both electroencephalogram and computed tomography scan results were normal; however, an electrocardiogram revealed a prolonged QTc interval of 531 milliseconds. Signs of irritability and QTc prolongation continued through day of life (DOL) 5. The infant was discharged on DOL 10 with no further symptoms. We hypothesize that this represented a case of serotonin toxicity due to in utero exposure to escitalopram and recommend close monitoring for neonatal behavioral syndrome symptoms and QTc prolongation in infants exposed to escitalopram during pregnancy.

Case 1: A Hypotonic Newborn

The patient is a full-term male infant and fourth child of nonconsanguinous parents. He was conceived naturally and his mother was well throughout the pregnancy. An amniocentesis performed at 17 weeks’ gestation showed normal chromosomes: 46,XY. Late-onset growth restriction occurred from 32 weeks of gestation and was symmetrical, with all parameters at the 10th percentile. No fetal anomalies were detected in antenatal scans. The infant was delivered vaginally at 38 weeks’ gestation. He was vigorous at birth with good Apgar scores and a birthweight of 2.365 kg. At 4 hours, the infant was reported to be hypotonic, lethargic, and sucking poorly. He was quiet and had a weak cry, with minimal grimacing to painful stimulus. He had limited peripheral movements, both proximal and distal, with frog leg posturing of his lower limbs and marked head lag. His muscle bulk was preserved and no muscle fasciculations were seen. Deep tendon reflexes were normal. He had a poor suck and rooting reflex. His pupils were normal and reactive …

Urbach-Weithe disease (lipoid proteinosis): A classical presentation.

A 10-year-old female child presented with a history of blistering over face and entire body along with a weak cry since infancy and hoarseness of voice that progressively worsened with age. The blisters would occur in response to minor trauma and resolve with depressed scars. On examination, multiple, atrophic, pock-like scars were noted over the face [Figure 1] as well as extremities and trunk [Figure 2]. Both eyelids showed multiple, well-defined beaded papules along the upper and lower margins (moniliform blepharosis) [Figure 1]. Skin over the extensor aspect of the elbows and knees was thickened and showed a few brownish, thickened plaques [Figure 3]. Upon oral examination, the sublingual frenulum and tongue were found to be infiltrated and thickened with inability to protrude the tongue beyond the oral cavity [Figure 4]. The tongue had a woody hard feel on palpation. The parents denied any history of epilepsy, behavioral disturbances, or similar ailment in any family member. A provisional diagnosis of lipoid proteinosis was made and subsequently confirmed by histopathological examination, which revealed periodic acid schiff (PAS)-positive, diastase-resistant eosinophilic material in dermis and walls of blood vessels [Figure 5]. Parents were counseled regarding the nature and progression of the disease.Figure 1: Multiple beaded papules on upper and lower eyelids in both eyes, with pock-like scars on nose and cheeksFigure 2: Multiple depressed scars over buttocks and thighsFigure 3: Brownish hyperpigmented plaques over both kneesFigure 4: Thickened, woody hard, and fixed tongue in oral cavityFigure 5: PAS-positive, diastase-resistant eosinophillic material deposition in perivascular and periadnexal spaces in dermis (20x)Lipoid proteinosis, also known as Urbach–Wiethe disease or hyalinosis cutis et mucosae, is a rare, autosomal recessive, inherited disorder associated with mutations in the ECM1 gene,[1] which encodes for the glycoprotein extracellular matrix protein 1. About 300 cases have been reported so far in the literature. The disease is characterized by deposition of hyaline material in oral cavity, skin, larynx, central nervous system, and others. It usually presents in infancy as hoarseness and weak cry that progressively worsens with age and may lead to aphonia[2] due to inelasticity of the vocal cords. The woody hard tongue is difficult to move or protrude outside oral cavity.[3] Skin susceptibility to trauma is marked and vesicles/bullae appear in crops, to subsequently heal with acneiform scars. The typical beaded papules along the upper and lower eyelid margins and brownish verrucous plaques over extensor surfaces such as elbows and knees are characteristic of the disease.[4] Poor nail growth, dental anomalies, and intracranial calcification in amygdala and temporal lobes leading to epilepsy or psychiatric disturbances may be seen.[5] Typical skin lesions, hoarseness, and thick immobile tongue usually suffice for clinical diagnosis, although other possible differential diagnoses, such as erythropoietic protoporphyria, amyloidosis, lichen myxedematosus and myxedema with hoarseness need to be carefully ruled out. Histology reveals hyperkeratosis, acanthosis and deposition of characteristic PAS-positive, diastase-resistant eosinophilic hyaline material in the perivascular, periadnexal areas as well as dermis and submucosa. Microlaryngeal surgery for vocal cords, blepharoplasty for eye lesions and dermabrasion, chemical peeling, and CO2 laser therapy for skin lesions may offer some symptomatic relief.[2] Favorable outcome with acitretin and d-penicillamine has been reported by some authors.[67] The overall prognosis of lipoid proteinosis is good, with normal life expectancy and stabilization of the disease in adulthood. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.

Index of Suspicion in the Nursery

A 25-year-old Hispanic gravida 1 woman gives birth to a female neonate at 352/7 weeks’ gestation via spontaneous vaginal delivery. Maternal history is significant for maternal blood type O+ and herpes simplex virus with no lesions noted at the time of delivery. She has not received viral suppressive therapy. Maternal group B Streptococcus status is unknown. The remainder of the maternal laboratory test results are negative, including hepatitis B surface antigen, chlamydia, gonorrhea, syphilis, and human immunodeficiency virus. She is rubella immune. Rupture of membranes occurred approximately 13 hours before the uncomplicated delivery. Twenty minutes after delivery, the infant develops respiratory distress with a weak cry and nasal flaring. Further examination reveals an asymmetric abdomen with a large, solid, smooth, right-sided abdominal mass. The mass is palpable from the liver edge to pelvic rim on the right, and it nearly crosses the midline. She also has a 2/6 systolic murmur. Vital signs are appropriate with a temperature of 98.2°F (36.8°C), heart rate of 127 beats per minute, respiratory rate of 30 breaths per minute, blood pressure …

Case report on short limb dwarfism - Rhizomelic chondrodysplasia punctata

We are reporting a case of rhizomelic chondrodysplasia punctata, which is a rare form of peroxisomal disorder. It is an autosomal recessive disorder with distinct clinical phenotype of dwarfism due to symmetrical shortening of the proximal long bones (rhizomelia), cataracts and specific radiological abnormality like punctate epiphyseal calcification. [1] A Hindu male baby, born at term (40 weeks) by vaginal delivery, had a weak cry at birth referred to Neonatal Intensive Care Unit for fast breathing. Baby had proximal shortening of upper limbs and lower limbs. Other dysmorphic features included depressed nasal bridge, broad nose, coarse facial features, long philtrum, and macrostomia. Baby had contractures at thigh and elbow. On ophthalmological examination, there was bilateral megalocornea and near mature cataract.

Spectrum of Clinical Symptoms in Children with Elevated Lactate: Pyruvate Ratio in a Tertiary Care Setting

Introduction: This study is designed to study clinical symptoms in children with elevated lactate: pyruvate ratio to understand the magnitude of respiratory chain disorder. Materials and Method: Children attending pediatric outpatient department in our center who showed clinical symptoms suggestive of inherited metabolic disorder were enrolled into the study. Arterial blood gas, lactate and lactate: pyruvate ratio were analysed by collecting arterial blood from selected children. Clinical symptoms of those children with elevated lactate: pyruvate ratio was evaluated. Result: 304 patients who showed clinical symptoms of either developmental delay without asphyxia, seizures, vomiting, poor suck or weak cry at birth were evaluated. Of them 147 showed one or more of positive biochemical findings such as metabolic acidosis, elevated lactate or lactate: pyruvate ratios which were the basic laboratory data to suspect energy metabolic disorder. Elevated lactate: pyruvate ratio was found in 81 patients, which is one of the biochemical markers to narrow down diagnosis of respiratory chain disorder. Conclusion: Our study showed that suspected energy metabolic disorders are not uncommon. Clinical suspicion is crucial to start further diagnostic profile. Children with delay in attaining milestones despite being born at term without asphyxia need to be referred for metabolic work up. There is a need to create awareness in primary health care providers about this in order to initiate further diagnosis and intervention. Elevated lactate: pyruvate ratio suggests this and warrants further work up. Serum alanine and beta-hydroxy butyrate: acetoacetate ratio may help us to know more about energy metabolic disorders like respiratory chain disorders.

Legal Briefs: Airway Obstruction or Botched Resuscitation?

A 38 5/7-weeks’-gestation male was born to a 23-year-old G1P0 woman who had received prenatal care and whose pregnancy was uncomplicated. Spontaneous rupture of membranes occurred at home, and the fluid was clear. Her group B streptococcus status was unknown. Because labor was ineffective, oxytocin was administered. The second stage of labor was slightly longer than 2 hours. The treating nurses noted variable and late decelerations, tachysystole, and intermittent sinusoidal fetal patterns on the fetal heart rate tracings. The anesthesiologist placed an epidural, and vaginal delivery was allowed to proceed. The infant had meconium staining. The arterial cord blood gas had a pH of 7.13, a Pco2 of 64 mm Hg, a Po2 of 12 mm Hg, and a base deficit of –8. The venous cord blood gas had a pH of 7.31, a Pco2 of 41 mm Hg, a Po2 of 22 mm Hg, and a base deficit of –5. The obstetric expert retained by the plaintiff maintained that the delivery by cesarean delivery should have occurred 6 hours before birth because signs of fetal intolerance to labor were obvious. He contended that the delivery should have occurred even before the second stage of labor began. The defense obstetrician disagreed and pointed to the fairly normal cord gas results as proof that the infant tolerated labor well. The routine practice of the hospital was to call the resuscitation team for every delivery. The resuscitation team at this delivery consisted of a newborn nursery nurse (registered nurse [RN]) and a respiratory therapist (RT). The infant had a weak cry at birth but was limp, blue, and had meconium present on the skin. He was placed on the mother’s abdomen for bonding. The plaintiff neonatologist was critical of the resuscitation team for not placing the infant immediately …

Rowland Payne syndrome in a neonate as a consequence of birth trauma

Abstract Background: The syndrome of Rowland Payne is a rare triad of unilateral Horner syndrome, ipsilateral vocal cord paralysis, and ipsilateral paralysis of the hemidiaphragm. Case: A healthy newborn was noted to have right ptosis, a weak hoarse cry, and stridor immediately following delivery with forceps. Pupillary miosis on the same side as the ptosis was observed. Chest X-ray showed elevation of the right diaphragmatic dome. A diagnosis of Rowland Payne syndrome was made. Neuroimaging did not reveal any structural mass lesions. The hoarseness and stridor resolved within 1 month without intervention. The Horner syndrome improved but did not disappear completely. Conclusion: In the few reported cases in the literature, the cause of Rowland Payne syndrome has been a malignant lesion of the anterior neck disrupting the oculosympathetic nerve, the vagus nerve, and the phrenic nerve. This is the first report of Rowland Payne syndrome in a neonate. We did not find any malignancy or compressive lesion to account for his symptoms and signs. We suggest that shearing forces at the lower neck at the level of the clavicle caused stretching and mechanical injury to these motor nerves or their branches. In this report of Roland Payne syndrome related to birth trauma, the prognosis was favorable.

Brain ultrasound in Canavan disease.

Canavan disease (MIM 271900) is a rare autosomal recessive leukodystrophy due to mutations in the ASPA gene (MIM 608034) and characterized by a clinical onset at 3-5months of life, macrocephaly and poor head control, weak cry and suck, development regression and hypotonia. Here, we report cranial ultrasound findings at birth and at 4months of age in a patient affected with Canavan disease. The comparison of our sonographic data with few other cases in literature allows us to suggest a characteristic pattern in Canavan disease.

Muscle Disease

On the basis of strong research evidence, Duchenne muscular dystrophy (DMD), the most common severe childhood form of muscular dystrophy, is an X-linked recessive disorder caused by out-of-frame mutations of the dystrophin gene. Thus, it is classified asa dystrophinopathy. The disease onset is before age 5 years. Patients with DMD present with progressive symmetrical limb-girdle muscle weakness and become wheelchair dependent after age 12 years. (2)(3). On the basis of some research evidence,cardiomyopathy and congestive heart failure are usually seen in the late teens in patients with DMD. Progressive scoliosis and respiratory in sufficiency often develop once wheelchair dependency occurs. Respiratory failure and cardiomyopathy are common causes of death, and few survive beyond the third decade of life. (2)(3)(4)(5)(6)(7). On the basis of some research evidence, prednisone at 0.75 mg/kg daily (maximum dose, 40 mg/d) or deflazacort at 0.9 mg/kg daily (maximum dose, 39 mg/d), a derivative of prednisolone (not available in the United States), as a single morning dose is recommended for DMD patients older than 5 years, which may prolong independent walking from a few months to 2 years. (2)(3)(16)(17). Based on some research evidence, treatment with angiotensin-converting enzyme inhibitors, b-blockers, and diuretics has been reported to be beneficial in DMD patients with cardiac abnormalities. (2)(3)(5)(18). Based on expert opinion, children with muscle weakness and increased serum creatine kinase levels may be associated with either genetic or acquired muscle disorders (Tables 1 and 3). (14)(15)

P.4.8 X-linked benign form of myotubular myopathy (XLMTM) with necklace fibres: A case report

X-linked myotubular myopathy (XLMTM) is usually a severe condition caused by mutations in myotubularin gen MTM1, (Xq28), a lipid inositide phosphatase acting in remodeling of membranes. Most of the affected patients present a severe neonatal form with hypotonia, weakness, facial diplegia, difficulties in sucking in addition to other symptoms dying within the first months. The biopsy features are consistent with the presence of central nuclei in most fibres. However, a more benign phenotype with a distinctive hallmark has recently been described. Herein, we present a four year old boy affected by this benign form. Patient was born by urgent caesarean section due to foetal bradycardia. He weighted 3.030 g. Presented axial hypotonic, scarce movements and respiratory distress, needing CPAP for few days. No tube feeding was required. Motor development was delayed. He had always difficulties in getting up from the floor. At 4 years he showed, facial weakness, weak cry, axial and head flexor muscles weakess. Cough was ineffective but no hypercapnia was detected. CK was normal. EMG was myopathic. Muscle biopsy showed two population of fibres. Most of the smaller one, revealed a “necklace” appearance. Genetic studies confirmed c.605T > C in exon 8 leading to p.I202S mutation in MTM1 gene. Necklace fibres constitute a hallmark for suspect diagnosis of this benign phenotype of XLMTM associated with mutation in the MTM1 gene. X-linked myotubular myopathy (XLMTM) is usually a severe condition caused by mutations in myotubularin gen MTM1, (Xq28), a lipid inositide phosphatase acting in remodeling of membranes. Most of the affected patients present a severe neonatal form with hypotonia, weakness, facial diplegia, difficulties in sucking in addition to other symptoms dying within the first months. The biopsy features are consistent with the presence of central nuclei in most fibres. However, a more benign phenotype with a distinctive hallmark has recently been described. Herein, we present a four year old boy affected by this benign form. Patient was born by urgent caesarean section due to foetal bradycardia. He weighted 3.030 g. Presented axial hypotonic, scarce movements and respiratory distress, needing CPAP for few days. No tube feeding was required. Motor development was delayed. He had always difficulties in getting up from the floor. At 4 years he showed, facial weakness, weak cry, axial and head flexor muscles weakess. Cough was ineffective but no hypercapnia was detected. CK was normal. EMG was myopathic. Muscle biopsy showed two population of fibres. Most of the smaller one, revealed a “necklace” appearance. Genetic studies confirmed c.605T > C in exon 8 leading to p.I202S mutation in MTM1 gene. Necklace fibres constitute a hallmark for suspect diagnosis of this benign phenotype of XLMTM associated with mutation in the MTM1 gene.

A Newborn With Hydrops, Hydrocephalus, and Ophthalmologic Abnormalities.

A male infant was born at an estimated gestational age of 34-3/7 weeks to a 24-year-old G3P2A0 mother, with unknown group B Streptococcus carriage status, immunity to rubella, and negative serologies for hepatitis B, syphilis, and human immunodeficiency virus (HIV). Pregnancy was complicated by fetal hydrops, initially detected by ultrasound 3 weeks prior to delivery. Prenatal magnetic resonance imaging (MRI) detected severe polyhydramnios, fetal hydrocephalus, and hydrops with ascites. Evaluation at that time also included a normal karyotype and negative Coombs test. The mother presented to our center in active labor, and Caesarian section was performed. Artificial rupture of membranes at the time of delivery revealed a large amount of clear fluid. The infant initially had a weak cry and was intubated in the delivery room, and he was transferred to the Neonatal Intensive Care Unit. Apgar scores were 6 at 1 minute and 7 at 5 minutes. The mother lives in St. Louis with her 2 children. She denied pets, animal exposure, travel outside of Missouri, and exposure to sick contacts or to raw or exotic foods. She also denied fevers, diarrhea, headaches, or other illnesses during her pregnancy. Birth weight was 3060 grams (>97th percentile for gestational age), length was 46 cm (50th percentile), and head circumference was 30 cm (10th percentile). Temperature was 36.7°C, heart rate 182/min, respiratory rate 49/min, and blood pressure 96/74 mmHg; oxygen saturation was 95% in room air. On examination, the infant was orally intubated and had spontaneous movements and normal tone. The anterior fontanelle was soft with sutures widely spaced. Red reflexes were absent bilaterally, and a detailed ophthalmologic examination subsequently revealed bilateral cataracts and bilateral retinal colobomas involving the macula. The abdomen was soft but distended; no organomegaly was appreciable. He had significant inguinal and scrotal edema. There were no rashes or skin lesions. The remainder of the physical examination was unremarkable. Complete blood count was notable for thrombocytopenia (81000/µL); chemistry panel was normal (glucose was 42 mg/dL), and liver enzymes were normal (alanine

A 3-month-old Boy With Concomitant Respiratory Syncytial Virus Bronchiolitis and Infant Botulism

To the Editors: A 3-month-old boy with respiratory failure was admitted to the pediatric intensive care unit of a Northern California medical center in February 2011. The illness began 3 days earlier with progressively worsening lethargy, cough and stridor, decreased oral intake and decreased urine output. A review of systems was notable for decreased bowel movements in the past week and the presence of copious clear secretions from the infant’s nose and oropharynx. The infant was born at term with no complications, was exclusively breastfed other than a dropperful of chicken broth given when the child was ill in the days before admission and had received no vaccines. A nasal aspirate polymerase chain reaction was positive for respiratory syncytial virus. Over the next 4 days, ventilatory settings were weaned as oxygenation normalized. The child was extubated twice, but each time developed hypercapnia requiring reintubation. Seven days after admission, the infant remained intubated and ventilated with poor respiratory effort. Neurologic examination revealed a nearly complete bilateral ptosis; facial diplegia with tears produced under stimulation and no facial grimace. Infant botulism was suspected. Stool was sent for Clostridium botulinum toxin, and botulism immune globulin was administered empirically. Two days later, stool tests revealed C. botulinum toxin type A and the diagnosis of infant botulism was confirmed. During the next 3 weeks, the child received nasogastric feeds and ventilatory support and slowly regained bulbar strength. He was extubated 9 days after botulism immune globulin administration and was discharged to home 1 month after admission with a mixed breastfeeding/tubefeeding regimen. He required supplemental oxygen by nasal cannula until 2 days before discharge. On discharge, the child was still noted to have decreased tone, a weak cry and mildly uncoordinated feeding mechanics. Infant botulism results from ingestion of spores of Clostridium species, which germinate and colonize the infant intestine, producing botulinum toxin. This toxin is absorbed and causes a descending, symmetric paralysis. Constipation is almost always the first sign of illness and is often overlooked (as in the case above).1 Diagnosis is confirmed by identification of C. botulinum organisms in the feces of an infant with a presentation consistent with the disease. Supportive care forms the cornerstone of therapy, though specific treatment has been available in the form of intravenous human botulism immune globulin since 1992, through the California Department of Public Health. Botulism immune globulin should be initiated as early as possible in the course of illness and should not be delayed for laboratory confirmation. Acute coinfection with respiratory syncytial virus and Clostridium spp. has not previously been described. This case serves to demonstrate the necessity to maintain an open differential diagnosis even when presented with laboratory confirmation of an apparent causative etiology. Kevin K. Quinn, MD James D. Cherry, MD, MSc Division of Pediatric Infectious Diseases UCLA David Geffen School of Medicine Neeta R. Shah, MD Laura J. Christie, MD Department of Pediatrics Kaiser Permanente Northern California Oakland, CA

Anaesthesia in a Parturient with Myasthenia Gravis- Transient Myasthenia in newborn

Myasthenia gravis is an acquired chronic autoimmune disorder caused by decrease in functioning of acetylcholine receptors at the neuromuscular junctions owing to their destruction or inactivation by circulating antibodies. Disease manifests in the form of easy fatigability, weakness, difficulty in swallowing and even paralysis of respiratory muscles necessitating assisted ventilation. The clinical course of myasthenia gravis and its effect on pregnancy outcome is unpredictable. Worsening of symptoms can occur at any stage during pregnancy and also in post operative period. We are reporting a case of maternal myasthenia gravis who underwent caesarean section and developed respiratory distress after 20 minutes of spinal anaesthesia. Her baby also had a weak cry, hypotonia and tachypnoea. Baby was shifted to neonatal intensive care unit with continuous oxygen supplementation. Baby was kept under close observation and recovered well after two weeks.

A floppy infant

Infant botulism is a relatively uncommon but potentially life threatening cause of a septic appearing or lethargic infant. A 6-week-old male infant presented to the emergency department with a history of poor feeding and fever for several days. His parents reported that he had been more sleepy than usual and had a weak cry. He had not passed any stool for five days. He was receiving a topical home herbal remedy for whitish lesions in his mouth. The rest of his review of systems and past medical history was non-contributory. On arrival to emergency department, he was ill appearing and lethargic. His vital signs were: temperature 101°F, heart rate 152/min, respiratory rate 44/min and oxygen saturation 99%. He had poor muscle tone and generalized weakness. He was diagnosed with infant botulism. It is extremely important that the diagnosis of infant botulism be suspected and appropriately treated when any infant presents with progressive weakness. Since infant botulism is a treatable condition, prompt diagnosis is therefore important in reducing morbidity and mortality.

Index of Suspicion in the Nursery

A term male infant presents 11 hours after birth with dusky color. He was born to a 38-year-old G5P3 mother via cesarean delivery because of recurrent fetal decelerations and the presence of meconium-stained fluid. Maternal history is significant for a history of posttraumatic stress disorder and bipolar disorder, requiring hospitalization during this pregnancy for suicidal ideation, as well as gestational diabetes and migraines. Maternal serologies are unremarkable. Maternal medications include clonazepam, fluoxetine, lithium, olanzapine, glyburide, and propranolol. She is given one dose of morphine more than 24 hours before the infant’s birth and epidural anesthesia with fentanyl and bupivacaine before delivery. At delivery, the infant has a weak cry initially. Once he is brought to the warmer, he has no spontaneous respirations. No meconium is suctioned below the vocal cords. Positive pressure ventilation (PPV) is initiated. Initial heart rate is less than 100 beats per minute, but then improves to greater than 100 beats per minute. He continues to require PPV because of apnea. After 3 minutes of PPV, his work of breathing is normal. It is felt that his initial respiratory depression at birth is related to the fetal distress he experienced as evidenced by the passage of meconium before delivery and fetal decelerations. Given his good response to neonatal resuscitation, the infant remains in the room with his mother. Initial physical examination by the pediatrician is unremarkable. Vital signs and results of glucose screening are unremarkable. He is noted to be feeding normally. At 11 hours after birth, his parents request that he come to nursery so they can sleep. While sleeping in the nursery, he is suddenly noted to be cyanotic and apneic. On examination, the infant is limp, cyanotic, and apneic with a heart rate greater than …

Four Cases of Thyroglossal Duct Cyst, which was Discovered in the Root of the Tongue in the Neonatal Phase and Early Phase of the Neonate and Infant

We reported the clinical symptoms and method of discovery of 4 cases of thyroglossal duct cyst in the root of tongue, which is a relatively rare congenital cyst. In all cases, the symptoms developed in the neonate at about 1 month after birth, and the cyst was discovered in the neonatal phase and in the early infant stage. The symptoms noticed by family members and nursing personnel included cyanosis/shortness of breath, which appeared repeatedly at feeding or weeping, a weak cry, a hoarse voice, and low weight gain. In addition, all symptoms were accompanied by the symptoms of respiratory disorder, such as intermittent retracted respiration and stridor at inspiration. The cyst was discovered at hospitalization in all cases, and could be detected by tongue depression or by intraoral examination with a laryngscope. It was surgically removed rapidly.