Hypoxaemia and interstitial lung disease in an infant with hypothyroidism and hypotonia.

A 7-month-old-term male infant presented with cough, tachypnoea, hypoxaemia and post-tussive emesis. Clinical history was significant for respiratory failure and pulmonary hypertension in the neonatal period requiring assisted ventilation, congenital hypothyroidism, mild hypotonia, recurrent respiratory infections, hypoxaemia requiring supplemental oxygen and nasogastric tube feeds. Physical examination showed tachypnoea, coarse bilateral breath sounds and mild hypotonia. Chest radiograph revealed multifocal pulmonary opacities with coarse interstitial markings and right upper lobe atelectasis. Following antibiotic therapy for suspected aspiration pneumonia, chest CT scan was performed and showed multiple areas of pulmonary consolidation and scattered areas of bilateral ground-glass opacities. Genetic studies showed a large deletion of chromosome 14q13.1-14q21.1, encompassing the NK2 homeobox 1 (NKX2-1) gene consistent with a diagnosis of brain-thyroid-lung (BTL) syndrome. Our case highlights the importance of genetic studies to diagnose BTL syndrome in infants with hypothyroidism, hypotonia and lung disease.

Mild hypotonia and recurrent seizures in an 8-month-old boy: Questions.

Hypomagnesemia with secondary hypocalcemia is a rare autosomal recessive disorder which manifests in early infancy with generalized seizures, other symptoms of neuromuscular irritability, and growth disturbances. Homozygous mutations in the magnesium transporter gene, transient receptor potential melastatin 6 (TRPM6), cause the disease. Here, we present an 8-month-old Turkish boy with a novel mutation of TRPM6. The patient, son of first-degree cousins, was hospitalized because of recurrent seizures and mild hypotonia. He had seizures since the newborn period and he had been treated with phenobarbital but there was no favorable response to therapy. His past history also revealed hypocalcemia detected on the newborn period but serum magnesium levels were not studied at that time. During hospitalization, we detected hypocalcemia, hypomagnesemia, and normal parathormone levels. Abdominal ultrasound was normal. Magnesium excretion was slightly increased. Considering the consanguinity of the parents and clinical features of the patients, genetic testing of the TRPM6 gene was performed and a novel homozygous mutation was detected as c.3178A>T. He was started on magnesium and calcium supplementation and he is symptom-free for 1 year. We would like to call attention to the measurement of serum magnesium levels in children with hypocalcemic convulsions. Early and appropriate treatment with magnesium supplementation is crucial.

Acute flaccid paralysis: Do not forget beriberi neuropathy.

We aimed to elucidate characteristics of beriberi neuropathy (BB) in a general hospital (GH) setting. Nerve conduction studies (NCS), cross-referenced with clinical records of patients admitted to a GH (May 2011-July 2017), were reviewed for diagnosis of BB. Thirteen patients (age range 23-64 years; five women) were diagnosed with BB. Eleven were incarcerated (2-24 months) at time of index event. Eleven reported prior, severe anorexia (2-6 months); five reported significant weight loss, three had recurrent vomiting, and three reported alcohol misuse. Commonest presentation was weakness (12/13); nine had symptom evolution over ≥3 weeks. At nadir, 11/13 could not walk independently. Other features included numbness/paraesthesiae (10/13), dysautonomia (6/13), vocal cord dysfunction/dysphagia (4/13), nystagmus (3/13). Pain was not prominent. Cerebrospinal fluid, tested in five patients, was acellular; one showed mildly increased protein. NCS showed predominantly sensorimotor, axonal polyneuropathy, rarely asymmetric. Only one patient had sural-sparing pattern. All received high dose thiamine. Two of the thirteen received intravenous immunoglobulin for suspicion of Guillain-Barré syndrome (GBS). Eleven improved to independent ambulation. One patient died from pulmonary embolism; one was lost to follow-up. Two of the thirteen had residual neurocognitive effects; both misused alcohol. Besides GBS, BB is an important cause of acute to subacute flaccid paralysis, especially in incarcerated patients and those with significant dietary deprivation. Features favoring BB over GBS are ≥3 weeks of symptoms, nystagmus, confusion, vocal cord dysfunction, volume overload, normal spinal fluid, elevated lactate, and absence of sural-sparing pattern in NCS.

Resultados del tratamiento kinésico precoz y oportuno en un niño con Parálisis Facia / Results of early and timely kinetic treatment in a child with Facia paralysis

the case of a 12 years old male patient with right Facial Paralysis diagnosis begin his treatment in the SUK (Physiotherapy University Service). At the beginning of the treatment, the patient presents: a fascial alteration with noticeable muscle weakness on the right side and a increased muscular tone on the opposite side. The patient receive nine (9) sessions of physiotherapy treatment based on indirect selective electromiostimultion with exponential and rectangular current, asociated with muscle rehabilitation exercises and massotherapy. By this tecnic, the muscular thofysm is mantein. Once that the patient recovered the muscular functions, he were able to develop symmetry and sychrony on his gesture. The patient achive his total recuperation in a short time and with a low number of session without any complication associate to the treatment

Paciente de 12 años, de sexo masculino, con diagnóstico médico de parálisis facial derecha, que ingresa al Servicio Universitario de Kinesiología de la Facultad de Medicina de la UNNE. Al inicio del tratamiento, el paciente presenta: alteración de la fascie con una marcada hipotonía de la hemicara afectada y una leve hipertonía en el lado contralateral. Se realizaron nueve sesiones de tratamiento kinésico basado en electroestimulación muscular selectiva indirecta con corriente exponencial y rectangular, asociada a ejercicios de reeducación muscular y masoterapia. Mediante esta técnica se logra mantener el trofismo muscular; una vez que el paciente recupera las funciones musculares, posteriormente desarrolla simetría y sincronía en la realización de los gestos de la mímica. El paciente logra su recuperación total en un corto considerado breve, sin ninguna complicación derivada de la utilización de electroestimulación

Sensory abnormalities in autism. A brief report.

Sensory abnormalities were assessed in a population-based group of 208 20-54-month-old children, diagnosed with autism spectrum disorder (ASD) and referred to a specialized habilitation centre for early intervention. The children were subgrouped based upon degree of autistic symptoms and cognitive level by a research team at the centre. Parents were interviewed systematically about any abnormal sensory reactions in the child. In the whole group, pain and hearing were the most commonly affected modalities. Children in the most typical autism subgroup (nuclear autism with no learning disability) had the highest number of affected modalities. The children who were classified in an "autistic features" subgroup had the lowest number of affected modalities. There were no group differences in number of affected sensory modalities between groups of different cognitive levels or level of expressive speech. The findings provide support for the notion that sensory abnormality is very common in young children with autism. This symptom has been proposed for inclusion among the diagnostic criteria for ASD in the upcoming DSM-V.

Transient tone abnormalities in high risk infants and cognitive outcome at five years.

OBJECTIVE: to identify transient tone abnormalities and determine its prevalence in high risk infants and their cognitive outcome at 5 years. DESIGN: prospective cohort observational study. SETTING: high risk infants discharged from a level II neonatal unit in a 12 month period, and followed upto 5 years. METHODS: High risk infants and normal controls were assessed for abnormalities of tone using the method described by Amiel Tison at 3, 6, 9, 12 months. An IQ by Stanford Binet method and a preschool inventory by Ayres, Bobath was done at 5 years. Those infants who had normal tone at 6 and 12 months were called normal high risk (HR) group and those who had abnormalities at 6 months, which disappeared at 12 months, were called the transient tone abnormalities (TTA) group. RESULTS: out of 190 high risk infants, 113 were normal HR and 67 (35.2%) were labeled as TTA. Ten infants with cerebral palsy had abnormal tone throughout the first year. Controls had normal tone throughout the follow-up period. Although there was no difference in the IQ of the TTA group (98.5 ± 12.4) and the normal HR (99.1 ± 13.1) group, it was significantly less (P=0.04) than that of controls (106.1 ± 9.1). Preschool inventory in TTA children showed poor language development (P=0.014). CONCLUSION: many of the tone abnormalities detected at 6 months resolve by 12 months, hence a hasty diagnosis of cerebral palsy should not be made. High risk infants with transient tone abnormalities have a normal cognitive outcome at 5 years, except for poor language skills.

Lack of effect of acupuncture on electromyographic (EMG) activity--a randomised controlled trial in healthy volunteers.

BACKGROUND: Acupuncture is used clinically to treat muscle spasticity and flaccidity. Claims have been made that acupuncture can affect muscle EMG activity, though there is some doubt about the reliability of these studies. This study's aim was to examine the immediate effects of acupuncture on the EMG activity of the common wrist extensor muscles. METHODS: Thirty five right-handed healthy volunteers, 17 male and 18 female, aged 18-70 years were recruited from a convenience sample. Five subjects provided reliability data, and the remaining 30 took part in the main study. The study was a crossover, within-subject design, with the interventions counterbalanced. The three conditions were genuine acupuncture to LI4 (Hegu) and LI10 (Shousanli) for 20 minutes, with de qi; inappropriate acupuncture to PC3 (Quze) and PC6 (Neiguan) for 20 minutes; and 20 minutes of a no intervention control. All participants received each condition in random order. The outcome measure was surface EMG activity recorded over the common wrist extensor muscles during a 10 second, sub-maximal, isometric contraction. The average of three readings was used. The reliability of the outcome measurement was assessed in five volunteers selected at random who received repeated EMG recordings without acupuncture. RESULTS: The reliability tests showed the EMG procedure was highly reliable, with an intraclass correlation coefficient (ICC 2,1) of 0.9996 and a standard error of measurement of 0.014 mV. In the main study, paired t tests for the effect of the order of the first two interventions showed no detectable carry-over effect. Freidman analysis of variance found no difference between the three conditions (P=0.573). CONCLUSION: No meaningful change was detected in EMG activity following acupuncture interventions, but this study provides a sound protocol and normative values on which to plan future research.

Neuromuscular rehabilitation and electrodiagnosis. 4. Pediatric issues.

UNLABELLED: This self-directed learning module highlights the physician's role in the diagnosis and treatment of neuromuscular disorders in pediatric populations. It is part of the chapter on neuromuscular rehabilitation and electrodiagnosis in the Self-Directed Physiatric Education Program for practitioners and trainees in physical medicine and rehabilitation. This article discusses both clinical and electrodiagnostic features of common neuromuscular disorders in pediatric populations. The diagnostic value of somatosensory evoked potential is reviewed in a case of traumatic spinal cord injury without radiographic abnormality. Therapeutic interventions of progressive muscular dystrophy are discussed, as well as the differential diagnosis of floppy infant syndrome, the most common pediatric electrodiagnostic referral. OVERALL ARTICLE OBJECTIVES: (a) To become familiar with electrodiagnosis and rehabilitation for common neuromuscular disorders in the pediatric population, (b) to undrstand electrodiagnostic findings of Guillain-Barre syndrome corresponding to pathophysiology, (c) to become familiar with somatosensory evoked potentials, and (d) to be able to make differential diagnosis of floppy infant syndrome based on clinical findings as well as electrodiagnosis.

Neuromuscular rehabilitation and electrodiagnosis. 5. Myopathy.

This self-directed learning module highlights hypotonia, facioscapulohumeral dystrophy, and herbal supplements causing muscle weakness. It is part of the chapter on neuromuscular rehabilitation and electrodiagnosis in the Self-Directed Physiatric Education Program for practitioners and trainees in physical medicine and rehabilitation. This section presents advances in the diagnosis of myotubular dystrophy, myoblast transfer, and problems associated with the increased use of herbal supplements.

Stridor as the major presenting symptom in riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

UNLABELLED: Inspiratory stridor of unknown origin was the leading clinical symptom in an 11-month-old boy. The stridor increased over a period of 4 weeks, and assisted ventilation became necessary. Selective urinary screening by gas chromatography/mass spectrometry analysis revealed excretion of ethylmalonic and 3-OH-isovaleric acid and of N-isobutyryl-, N-2-methylbutyryl-, N-isovaleryl-, N-hexanoyl- and N-suberylglycine. Neither hypoglycaemia nor metabolic acidosis were noticed. Treatment with 200 mg of riboflavin per day led to a dramatic clinical improvement with restoration of normal respiration and an increase in muscular tone within 2 months. During this period, metabolite excretion in urine completely normalized. Riboflavin-sensitive multiple acyl-CoA dehydrogenation deficiency was confirmed in cultured fibroblasts. With riboflavin supplementation, the development of the child has been favourable, with normal school attendance now at an age of 9 years. CONCLUSION: As respiratory symptoms might precede other symptoms in disorders of mitochondrial oxidation, we propose determination of urinary organic acids in all cases of unexplained laryngeal stridor.

[The incidence of poisoning by Karwinskia humboldtiana in Mexico]. / Frecuencia de intoxicación con Karwinskia humboldtiana en México.

Intoxication produced by Karwinskia humboldtiana presents a neurological picture similar to that of poliomyelitis, Guillain-Barré syndrome or other polyradiculoneuritis with which it is frequently confused. The purpose of this paper is to report the frequency of this intoxication, by means of the antecedent of ingestion of the fruit and the detection of toxins in blood using a thin layer chromatography method. One hundred fifty four samples of cases with acute flaccid paralysis from 18 states of the country were received. The antecedent of ingestion in 56 of them was corroborated and the detection was positive in 50 of these. In 98 patients there was not antecedent of ingestion and detection was negative in 95 of them. We estimated that the sensibility and specificity of detection method are 89% and 96.9% respectively.

Glycyrrhizin (licorice)-induced hypokalemic myopathy. Report of 2 cases and review of the literature.

Fifty-nine cases of glycyrrhizin (licorice)-induced hypokalemic myopathy (GIHM), 2 females treated in our departments (85 and 73 years old) and 57 cases reported in the literature were studied, and conditions leading to the onset, factors, clinical manifestations, laboratory assessments, muscle biopsy findings, treatment and outcome were discussed. The 59 GIHM cases comprised 32 men, 25 women and 2 patients without record of sex; the average age was 55.2 years. In many cases, conditions leading to the onset of GIHM were habitual licorice ingestion, ingestion of antituberculosis agents containing licorice and long-term ingestion of licorice-containing agents for chronic gastritis, chronic hepatitis or chronic dermatitis. The combined use of hypotensive diuretic agents increased the risk of GIHM in an overwhelming number of cases. The main clinical symptom was flaccid quadriplegia in almost all cases, with muscle pain in 32.2% and peripheral dysesthesia in the extremities, manifested mainly by numbness (27.1%). Laboratory findings included a mean serum K+ value of 1.98 mEq/l (56 GIHM cases), a mean creatine kinase of 5,385.7 IU/l (n = 30), a mean blood aldosterone concentration of 2.92 ng/dl (n = 30; normal: 2.0-13.0 ng/dl) and a mean plasma renin activity of 0.17 ng/ml/h (n = 27; normal: 0.8-4.4 ng/ml/h). Muscle biopsy was performed in 17 of the 59 cases with resultant findings of myopathic changes consisting mainly of phagocytosis, necrotic fibers, vacuolar degeneration, together with sporadic neurogenic changes. Complete cure was attained in 57 of the 59 cases of GIHM by discontinued ingestion of glycyrrhizin (licorice) and potassium supplement.

Hypotonia of rickets: a sequential study by P-31 magnetic resonance spectroscopy.

To address the role of high-energy phosphorus compounds in the hypotonia of vitamin D-dependent rickets, nuclear magnetic resonance spectra were obtained sequentially from resting gastrocnemius muscle of a 10-month-old infant with rachitic hypotonia during supplementation with vitamin D, calcium, and phosphorus. During the initial weeks of treatment, the hypotonia resolved before evidence of epiphyseal mineralization. Over the early treatment period, the muscle phosphocreatine/beta-adenosine triphosphate [PCr/beta-ATP] ratio increased from 2.7-2.8 [wk 1-2] to 3.9-4.5 [wk 7-9]. The PCr/beta-ATP ratio for 6-month-old normal infant gastrocnemius and adult forearm were 4.0 and 5.7, respectively. Muscle strength appeared to recover concomitantly with an increase in retained muscle phosphorus and high-energy phosphate compounds, and with relative increase in the muscle phosphocreatine to ATP ratio. The synchrony of clinical recovery may relate to the recovery kinetics of these metabolic changes.