Transient Neonatal Myasthenia Gravis: A Case Report.

Transient neonatal myasthenia gravis (TNMG) is a neuromuscular disorder that occurs in infants born from mothers with myasthenia gravis (MG) due to transplacental transfer of antibodies against the acetylcholine receptor. TNMG is a rare form occurring in 10-15% of infants born from mothers with MG. We present a case of a newborn with TNMG with generalized hypotonia and respiratory distress. The newborn shows symptoms of hypotonia, weakened reflexes, poor crying, difficult sucking and potentiated tachydyspnea after 24 hours of birth and needs of assisted mechanical ventilation. Based on the mother's positive history of MG and the high titer of mother's (8.43nmol/l) and newborn's (9.088nmol/l) anti-AChR antibodies, TNMG was diagnosed. The baby was treated with assisted mechanical ventilation and neostig-mine until the anti-AChR antibody titer was negative. Adequate management of the newborn resulted in a positive outcome and evident withdrawal of the symptoms. Although TNMG is one of the rare neuromuscular disorders in newborns that can be treated, a multidisciplinary approach in the management of pregnant women with MG and newborns through timely diagnosis and early appropriate treatment, results in successful resolution of this condition.

Transient neonatal myasthenia gravis: refining risk estimate for infants born to women with myasthenia gravis.

OBJECTIVE: Transient neonatal myasthenia gravis (TNMG) can render a neonate vulnerable to catastrophic respiratory depression. Our aim was to describe the clinical manifestations of TNMG, and to determine when the myasthenic signs become apparent in TNMG. METHODS: We reviewed our own experience of infants who underwent routine inpatient monitoring for TNMG and combined our local data with observations from previous studies. RESULTS: Only three case series (n = 110) reported both the type and timing of onset of myasthenic signs. Adding local data (n = 37) yielded 147 infants born to women with MG. Fifteen infants (10%) developed signs of TNMG with onset being 1.5 ± 2.6 days (mean ± 3SD) after birth. Feeding difficulties and low tone were the commonest presenting signs, and only 1 of the 147 infants needed intubation for hypoventilation. CONCLUSIONS: TNMG signs were mostly not life-threatening. We suggest only 4 days of routine postnatal observation for infants born to women with MG.

Myasthenia gravis and pregnancy.

Myasthenia gravis (MG) is an autoimmune disorder with bimodal age of presentation, occurring in young women of reproductive age and at an older age in men. Occasionally, MG is diagnosed during pregnancy. Management of MG includes symptomatic treatment with cholinesterase inhibitors and immunosuppressive therapy for controlling the disease activity. Treatment of MG in women of reproductive age, who may be contemplating pregnancy, requires discussion regarding the choice of medication as well as the understanding of risks/adverse effects involved with various treatments. During the peripartum period, it is essential to ensure careful monitoring of the disease state along with the well-being of the mother and fetus and to coordinate neonatal monitoring overseen by a multidisciplinary team comprising a high-risk maternal fetal medicine specialist, a neurologist familiar with these complex issues, and a neonatologist.

Miastenia gravis y embarazo: caso clínico / Myasthenia gravis and pregnancy: clinical case

La miastenia gravis es una enfermedad autoinmune que afecta a la placa motora produciendo debilidad y fatiga en la musculatura estriada. Durante la gestación el curso de la enfermedad es impredecible. Un 10-20% de los neonatos pueden padecer miastenia gravis neonatal por el paso de autoanticuerpos maternos. Reportamos un caso de una gestante añosa, primigesta, con diagnóstico de miastenia gravis previo, que recibió tratamiento multidisciplinario sin presentar complicaciones maternas ni morbilidad neonatal (AU)

Myasthenia gravis is an autoimmune disease that affects the motor plate producing weakness and fatigue in striated muscle. During gestation, the course of the disease is unpredictable. 10-20% of infants may develop neonatal myasthenia gravis by the passage of maternal autoantibodies. We report a case of a pregnant woman aged primgravida diagnosed with myasthenia gravis prior, who received multidisciplinary treatment, without showing maternal complications and neonatal morbidity (AU)

[Neonatal hyperthyroidism: A sometimes challenging diagnosis]. / L'hyperthyroïdie néonatale : un diagnostic parfois difficile.

Graves disease complicates two pregnancies out of 1000 and when it is known before pregnancy, it warrants careful monitoring of the fetus and the newborn. We report on a case of neonatal hyperthyroidism, which revealed a previously unknown maternal thyroid disease. In this situation, neonatal signs can be misinterpreted, delaying the diagnosis. Neonatal hyperthyroidism is, however, a therapeutic emergency because of the risk of cardiac and neurological complications. The neonatologist must identify thyroid disease in the absence of a maternal history in order to promptly start therapy.

Update on juvenile myasthenia gravis.

PURPOSE OF REVIEW: Juvenile myasthenia gravis is a relatively rare autoimmune neuromuscular disorder. The pathophysiology of juvenile myasthenia gravis is similar to that of adult myasthenia gravis, though there remain important differences regarding presentation and therapeutic options. We review the pathophysiology, clinical presentation, and treatment options for juvenile myasthenia gravis. RECENT FINDINGS: Randomized clinical studies of myasthenia gravis have been carried out primarily in adult populations. As juvenile myasthenia gravis is rare, it has been difficult to collect prospective randomized controlled data to evaluate treatment outcomes and efficacy. A recent retrospective series suggests that, as in adult myasthenia gravis, thymectomy is a viable therapeutic option for selected cases of generalized juvenile myasthenia gravis. This is corroborated by the clinical experience of the authors in a referral center with a cohort of patients affected by juvenile myasthenia gravis over a number of years. SUMMARY: Recent studies illustrate that some, but not all, adult research on myasthenia gravis is applicable to children and adolescents with juvenile myasthenia gravis. Adult research can inform pediatric studies, but should not be regarded as a substitute for dedicated research in those populations.

Congenital myasthenic syndromes and transient myasthenia gravis.

Hypotonia in the neonatal period and early infancy is a common clinical finding. It can be caused by various heterogeneous disorders of different origin which might lead to diagnostic difficulties. Disorders of the neuromuscular junction, such as congenital myasthenic syndromes and neonatal transient myasthenia gravis are among the aetiologies. We report on a case of congenital myasthenia caused by mutation in the long cytoplasmic loop of the epsilon subunit of the acetylcholine receptor and a neonate of a myasthenic mother diagnosed with transient myasthenia gravis.

Prenatal immunomodulation treatment in neonatal myasthenia gravis.

Neonatal mysthenia gravis (NMG) is a rare cause of arthrogryposis multiplex congenita (AMC) due to diaplacental transfer of maternal acetylcholine receptors (AChR) antibodies. 2 cases of severe NMG complicated by chronic lung disease and pulmonary arterial hypertension are reported. With respect to the severe course of the index patient, prenatal diagnosis and immunomodulation treatment were offered during the 2nd pregnancy. The combination of prenatal immunoadsorption (IA) therapy, administration of intravenous immunoglobulin (IVIG) and prednisolone failed. Failure may be partly explained by immaturity of the infant. However, considering the successful treatment of fetal/neonatal alloimmune thrombocytopenia (AIT) reported in literature, a treatment approach with IVIG doses up to 1-2 g/kg per week plus prednisone/prednisolone at a higher dose up to 1 mg/kg/d might be more effective.

Paediatric electromyography in the modern world: a personal view.

Paediatric electromyography (EMG) is an invaluable diagnostic test for the investigation of neuromuscular disease, but its use is inconsistent between and within different countries. One perception is that the procedure is painful; however, in comparison with common investigations performed routinely in children, EMG is better tolerated. While some developments, such as those within clinical genetics, would appear to mark its demise, paradoxically the more genetic abnormalities that are discovered in conditions such as hereditary neuropathy, the more precise a delineation of the phenotype is required. EMG has particular strengths in the diagnosis of neuropathies, motor neuronopathy and neuromuscular transmission disorders such as myasthenia. Also, it can supplement the investigation of myopathies. Areas of development include the diagnosis of myasthenia, delineation of bulbar palsy as a cause of dysphagia, more accurate and earlier prediction of prognosis in neonatal brachial palsy and investigation of channelopathies. It is a valuable diagnostic tool in developed countries and those with limited resources.

[Course and treatment of myasthenia gravis during pregnancy]. / Verlauf und Behandlung der Myasthenia gravis in der Schwangerschaft.

Pregnancy and family planning issues are frequent concerns in the medical care of patients with myasthenia gravis since disease onset often coincides with the life period which is decisive in this respect. Although pregnancy, delivery and breastfeeding represent special circumstances in these patients, they are not associated with higher risks of complications compared to normal pregnancy, delivery and postpartum period. Frequently asked questions regard the course of pregnancy as well as the impact of the disease and particularly medical treatment on pregnancy and the foetus or neonate. Great significance is attached to the mode of delivery since it is still widely accepted that patients with myasthenia gravis have to deliver per elective caesarean section. This paper gives an overview and provides a basis for the medical care and individual counselling of patients with myasthenia gravis who want to start a family or are already pregnant.

Marked hypotonia in an infant of a mother with Devic disease.

A full-term female neonate was born with severe hypotonia and weakness. Her mother had been treated for neuromyelitis optica (Devic disease) for 6 years. Her previous son, born 10 years earlier and before she developed the disease, also had marked hypotonia that gradually improved over several weeks. A suspicion of neonatal myasthenia gravis arose, as a search of the literature revealed the occasional detection of anti-acetylcholine receptor antibodies in patients with Devic disease. A neostigmine test was mildly positive in the baby, but anti-acetylcholine receptor antibodies were elevated. Aquaporin 4 antibodies typical of neuromyelitis optica were not detected in the infant. Because of clinical deterioration, intravenous immunoglobulin was administered with substantial improvement. Anti-acetylcholine antibodies were markedly elevated in the mother's serum, although she showed no clinical signs of myasthenia gravis. It is very likely that her previous baby also had unrecognized transient myasthenia gravis.

Can neonatal myasthenia gravis be predicted?

AIM: To determine any association between history of mothers with myasthenia gravis (MG) and the occurrence of neonatal myasthenia gravis (NMG). METHODS: The prospective study involved pregnant women with MG and their newborns delivered in our center throughout the nine-year period. The study included 16 newborns with NMG and 33 healthy newborns without symptoms of NMG. Their outcome was evaluated in relation to the duration of the illness (<5, 5-10, >10 years) and maternal therapy (no therapy, mestinon, corticosteroid, or combination of the two). RESULTS: The duration of maternal illness and type of therapy were not predictive of neonatal outcomes (P=0.159, and P=0.578, respectively). CONCLUSION: The duration of illness and therapy of women with MG do not correlate with manifestation of NMG and do not predict which pregnancies would result in an affected child. Because of possible severe, unpredictable, and life threatening NMG, these births should be carried out in a tertiary birth center.

Myasthenia gravis in pregnancy and birth: identifying risk factors, optimising care.

Women with myasthenia gravis (MG) have increased risk of pregnancy complications and an adverse pregnancy outcome. This study examined risk factors for such complications in order to improve the care for pregnant MG women. Through the Medical Birth Registry of Norway, 73 MG mothers with 135 births were identified. Their obstetrical and clinical records were examined. Data on pregnancy, delivery and the newborn were combined with information on mother's disease. The risk for neonatal MG was halved if the mother was thymectomized (P = 0.03). Children with neonatal MG were more likely to display signs of foetal distress during delivery (P = 0.05). Only in one-third of the pregnancies did the patient see a neurologist during pregnancy. These patients used MG medication more often during pregnancy (P = 0.001), and were more likely to be thymectomized (P = 0.007). They also had a higher rate of elective sections (P = 0.009). Thymectomy may have a protective effect against neonatal MG. Neonatal MG can cause foetal distress during delivery. Most MG women benefit from being examined by a neurologist during pregnancy, to minimize risks and select the best delivery mode in collaboration with obstetricians.

Akinesia, arthrogryposis, craniosynostosis: a presentation of neonatal myasthenia with fetal onset.

Major akinesia with arthrogryposis and craniosynostosis at birth mimics irreversible disorders of the nervous system of pejorative outcome. In this context, the early detection of anti-acetylcholine fetal receptor antibodies in the mother may allow rapid diagnosis of transient neonatal myasthenia of favorable prognosis.

Myasthenia gravis in pregnancy: report on 69 cases.

OBJECTIVE: To review our experience with pregnancies in women with myasthenia gravis (MG). STUDY DESIGN: Sixty nine pregnancies among 65 women with MG patients managed by our department over 28 years were included. The course of the disease in pregnancy, mode of delivery and postpartal period were evaluated. RESULTS: One pregnancy miscarried. In 15% of patients the MG deteriorated in pregnancy a further 16% in the puerperium. 17% of pregnancies were delivered by cesarean section, one due to myasthenia exacerbation. All women with puerperal infections developed exacerbations. One neonatal death, not attributable to myasthenia, was recorded. Transitory neonatal myasthenia gravis (TNMG) was diagnosed in 30% infants. Its incidence was inversely associated with maternal disease duration (P < 0.05). Newborns of thymectomized mothers showed lower rate of neonatal myasthenia compared to those of non-thymectomized women (P < 0.05). CONCLUSIONS: MG patients can have normal pregnancy and delivery but the course is unpredictable. Shorter disease history and infection predispose to puerperal exacerbation. Maternal thymectomy lessens the likelihood of neonatal myasthenia. An interdisciplinary approach is required for managing the pregnant women with MG.

[Neonatal myasthenic syndromes]. / Síndromes miasténicos del neonato.

INTRODUCTION: In the newborn, myasthenia can present either as transient neonatal myasthenia or as a congenital syndrome. At present at least 8 syndromes involving neonatal neuromuscular junction (NMJ) malfunction have been described; one caused by the passage of transplacental antibodies from mother to child, while all but one of the rest are inherited. Inheritance in all but two syndromes is autosomal recessive. One is an autosomal dominantly inherited illness; in another the mode of inheritance is not clear. The deficit in function of the NMJ is presynaptic in 3 instances, at the junctional gap in 1, and postsynaptic in at least 3 other syndromes. DEVELOPMENT: We will review the clinical symptoms, as well as neurophysiologic and genetic testing available for diagnosis. We explain how, at least, in some of the syndromes, one can begin appropriate therapy based on clinical, neurophysiological and simple pharmacological testing. CONCLUSION: However, in many cases, it becomes necessary to refer the patient or a tissue sample, usually an intercostal nerve muscle preparation, to one of the very few centers in the world where in vitro neurophysiologic, microstructural and genetic procedures leading to a more precise diagnosis can be performed.

Diagnóstico de miastenia grave neonatal transitoria a la cabecera del paciente / Bedside diagnosis of transiest neonatal myasthenia gravis

El diagnóstico de miastenia grave en el periodo neonatal es un hecho infrecuente. Los antecedentes familiares y el examen clínico deben orientar a la realización de un test farmacológico anticolinesterasa, mediante el cual se consiguen cambios en la expresión facial y la conducta motora del paciente que permiten establecer finalmente el diagnóstico. Este tipo de iconografía no es frecuente en la bibliografía (AU)