Evaluation of the floppy infant

This review outlines a clinical approach to the evaluation of the floppy infant. Attention is drawn to the varied manner in which the condition can present, and emphasis is placed upon a detailed assessment of characteristic clinical findings. A distinction is drawn between central and peripheral causes for hypotonia. Guidance is given regarding the importance of evaluating the child for signs of weakness, which is an important marker of neuromuscular pathology. Reference is made to situations where peripheral pathology may mimic central disorders. A diagnostic algorithm is outlined for the investigation of neuromuscular disorders, and reference is made to the discrepancy in findings that often exists between electromyography and muscle biopsy findings. Attention is drawn to available therapeutic options, as well as the importance of addressing ethical issues, which become of particular importance once a diagnosis is reached.     

Genetic evaluation of the floppy infant

Hypotonia in infants in the first year of life is a common diagnostic and management challenge for pediatricians and neonatologists. Several published clinical studies have shown that a substantial proportion of cases are accounted for by genetic disorders. Rapid advances in biotechnology, bioinformatics, and molecular genetic testing have made it possible to offer specific genetic diagnoses in a timely manner. The value of clinical examination in the localization of hypotonia within the nervous system as the first step towards a diagnosis cannot be overemphasized. Due importance should be given to specific features on examination and in the selection of appropriate laboratory tests to minimize laboratory costs. Inborn errors of metabolism, although infrequently encountered, are of importance. Based on clinical evidence from published studies, an algorithm is suggested that would incorporate the clinical features and testing modalities in providing a high diagnostic yield for the clinician.     

Clinical evaluation of the floppy infant.

The list of possible diagnoses for floppiness in infancy is extensive, with potentially hundreds of rare diseases. Nonetheless, most floppy infants have distinctive features in the history, the family history, or the physical examination that quickly narrow the list to central or motor unit disorders, and often to specific diagnoses within these broad groups. Accurate diagnosis is important, as outcomes are similarly protean, genetic implications are frequent, and in some cases specific treatments are possible.     

Chronic neuropathy presenting as a floppy infant with respiratory distress.

Respiratory distress was the presenting feature in a 4-month-old male infant suffering from Déjérine-Sottas disease, an inherited sensory-motor polyneuropathy. This unusual but potentially benign disorder can be diagnosed upon peripheral nerve biopsy by noting extensive demyelination with "onion bulb" formation. Polyneuropathy should be considered in the differential diagnosis of infantile neuromuscular weakness including or solely involving bulbar and respiratory muscles.     

Organic aciduria. Treatable cause of floppy infant syndrome

A floppy infant is described who has an inborn error of organic acid metabolism due to defective activity of the enzyme beta-methylcrotonyl CoA carboxylase. She presented with hyperventilation, hypotonia, and regression of motor and intellectual development. She responded to treatment with biotin.     

Pediatric chest ultrasound: a practical approach

Chest ultrasonography is an important imaging adjunct for diagnosing and managing disease in children. Compared with CT and MRI, ultrasound is cheaper, portable and provides vascular or flow-related information that cannot otherwise be obtained noninvasively. The spatial and temporal resolution of ultrasound is excellent, particularly for superficial structures. In cases where a suspicious abnormality is found, tissue sampling can be performed percutaneously with US guidance. Ultrasound also excels at demonstrating and characterizing pleural fluid collections. As concerns about radiation exposure increase among laypersons and doctors alike, there is a compelling argument for making ultrasonography the initial imaging study of choice for many thoracic abnormalities in a child. In this review the authors discuss and illustrate the US findings of some of the more common chest complaints in children.     

Organic aciduria. Treatable cause of floppy infant syndrome.

A floppy infant is described who has an inborn error of organic acid metabolism due to defective activity of the enzyme beta-methylcrotonyl CoA carboxylase. She presented with hyperventilation, hypotonia, and regression of motor and intellectual development. She responded to treatment with biotin.     

Muscle disease in children: a practical approach

This paper has given an overview of the complexity of childhood muscle disease. Fortunately, astute history-taking and physical examination, combined with readily available tests, will usually enable the clinician to formulate a diagnosis and plan of management.     

Paediatric acute liver failure: a practical approach

Acute liver failure (ALF) in the paediatric patient is a multisystem complex disorder, which occurs in the absence of chronic liver disease. Globally, viruses remain a common cause but drugs, metabolic and autoimmune conditions are important triggers. In up to half of cases no specific cause is identified. The definition entails a coagulopathy with a Prothrombin time (PT) ≥ 15seconds or International Normalized Ratio (INR) ≥ 1.5 not corrected by vitamin K in the presence of hepatic encephalopathy (HE) or a PT ≥ 20 or INR ≥2 or above regardless of HE. HE can be difficult to recognize in children and is defined differently than HE in adults. Timely recognition of ALF improves outcomes and allows time to undertake investigations, provide supportive therapy and arrange transfer to a specialist paediatric liver centre with transplant capacity. The purpose of this article is to review the aetiologies of ALF in children and outline an approach to investigation, management and treatment.     

Congenital penile curvature in children: a practical approach

Penile curvature is an anomaly of the male genital organ characterized by axial or lateral deviation during erection. It may be congenital or acquired. Ventral curvature of the penis, common in the embryo, may persist in 31% of premature babies and tends to self-correction in the early months of life. Most cases present with moderate curvatures without functional problems. Some may present with marked curvatures in the early years of life, causing major psychological and functional problems. The authors present their experience in 16 consecutive prepubertal cases treated surgically and propose a new classification based on embryological considerations.     

Nevi in children: a practical approach to evaluation

Education is the cornerstone of melanoma prevention. Well-child examinations are an excellent opportunity to educate patients and parents about melanoma risk factors and prevention. The only modifiable risk factor for the development of melanoma and acquisition of nevi is level of sun exposure. Every patient who is evaluated for a melanocytic lesion should be educated about sun avoidance during midday, protective clothing including long-sleeved shirts, long pants, and hats with brims, and playing in shaded areas when outdoors. Proper application and appropriate uses of sunscreen should also be reviewed.     

Pediatric cervical spine trauma imaging: a practical approach

Cervical spine trauma in children is rare and the diagnosis can be challenging due to anatomical and biomechanical differences as compared to adults. A variety of algorithms have been used in adults to accurately diagnose injuries, but have not been fully studied in pediatric patients. In this article we review suggested imaging protocols and the general characteristics, types of injuries, and measurements used to diagnose cervical spine injuries in children.     

Neonatal pharmacology—a practical approach

Indian Journal of Pediatrics -     

The anatomy and art of writing a successful grant application: a practical step-by-step approach

Writing a compelling grant application is a skill that is crucial to conducting high-quality and high-impact scientific research. A successful grant proposal provides the resources necessary to foster activity in an important area of investigation. A concise and practical overview of the anatomy and art of grant writing is provided in this article, along with citations to resources that are particularly useful for junior investigators.