Approach to Genetic Disorders Presenting with Infantile Hypotonia

Genetics No Responses »
Feb 192011
Etiology
  • Hypotonia is a nonspecific sign that may be caused by a wide variety of etiologies.
  • Dysfunction in any component of the central or peripheral nervous system can cause hypotonia, including diseases of the muscle, neuromuscular junction, nerves, spinal cord, brain stem, cerebellum, basal ganglia, and cerebrum. Central hypotonia with peripheral spastic hypertonia is highly suggestive of central nervous system (CNS) involvement.
Clinical Presentation
  • Historical features supporting a genetic etiology include family history of neuromuscular disease, parental consanguinity, and a prior affected sibling. However, the absence of these features does not rule out a genetic cause.
  • Contractures in the newborn indicate prenatal onset but do not suggest a single, specific diagnosis.
  • Additional features that may indicate an underlying syndrome may not be present at a young age or may be difficult to appreciate in the neonate or infant.
Laboratory Studies
  • Several tests are recommended in the evaluation of a child with hypotonia and concern for a genetic disorder.
    • Blood tests: methylation studies for Prader-Willi and Angelman syndromes, creatine kinase, lactate and pyruvate, serum/plasma amino acids, comprehensive metabolic panel, karyotype (if normal, perform chromosomal microarray analysis), very long-chain fatty acids quantification, SMN molecular analysis (if reflexes absent), and Continue reading »
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Evaluation of the Oral Cavity and Pharynx in Children

Gastroenterology No Responses »
Feb 102011
Physical Examination
The oral examination begins anteriorly with a systematic evaluation of structures from anterior to posterior, from left to right.
The floor of the mouth is evaluated by having the patient elevate the tongue. In small children the tongue will often need to be elevated mechanically. The retromolar trigone (the area among the inferior aspect of the anterior tonsillar pillar, medial aspect of the mandible, and lateral aspect of the tongue) needs to be evaluated by pushing the lateral tongue medially to expose this region. The faucial arches need to be closely evaluated for signs of abnormality.
The tonsils should be evaluated for signs of inflammatory changes as well as debris collecting within the crypts of the tonsil. Tonsillar size should be graded on a 1 to 4 scale: 4+ tonsils touch in the midline. Tonsils that are 1+ in size are contained within the tonsillar fossa; 2+ tonsils extend to the medial extent of the tonsillar pillars; 3+ tonsils extend beyond the tonsillar pillars. The oropharyngeal inlet should also be evaluated for adequacy. The tonsils may be of relatively small size but, when combined with a small oropharyngeal inlet, may be obstructing. The posterior pharyngeal wall should be evaluated for symmetry. Granular tissue may often be seen on the posterior pharyngeal wall and represent small areas of lymphoid tissue. Lateral pharyngeal bands are frequently present and represent mild inflammatory changes on the posterior pharyngeal wall secondary to nasopharyngeal drainage or other irritation of this lymphoid tissue. Continue reading »
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Growing Pains in Children

Musculoskeletal System 1 Response »
Feb 062011
Growing pains are the most common cause of recurrent limb pain in childhood. A debate concerning the entity of growing pains has been ongoing for decades.
Causes
Growing pain is probably a misnomer because the pains are not associated with physiological growth. There appears to be no correlation between the occurrence of growing pains and the rapid phase of growth, epiphyseal closure, or hormonal changes. Perhaps this term is used because the condition occurs in growing people and does not usually occur in adulthood (after cessation of growth). An extension of the syndrome in adults may include restless leg syndrome.
Incidence
It appears that the prevalence of growing pains is between 4.2 and 33.6%; however, this wide range is dependent on the criteria utilized for diagnosis. The low incidence reported by Naish and Apley was indicative of their stricter criteria: recurrent pain lasting at least 3 months and causing disruption of normal daily activities.

Pathogenesis
The pathogenesis of growing pain is unknown. Many etiologies have been suggested, including orthopedic deformities, postural abnormalities, and psychosocial problems. Studies have shown that there is a familial incidence of growing pains and emotional disturbances. Oster reported that 39.2% of the children had multiple symptoms, with headache or abdominal pain in addition to the limb pain. Apley suggested that recurrent limb pains were perhaps an expression of a reaction pattern that might partly reflect an emotional disturbance or might reflect part of a familial pattern of pain reactivity.
Clinical Characterisitics
Growing pains are characterized as deep aching located in nonarticular sites, primarily within the muscle groups. The pain is typically bilateral, usually occurring late in the day or the evening. The pain is not associated with limping or limited mobility. There is no history of trauma or infection, and objective findings are lacking on physical examination. The areas most frequently involved include the thighs, calves, popliteal fossae, and, occasionally, the forearms and trunk. Rarely the pain is located in the periarticular tissues. The complaint of intrinsic joint pain should not be misdiagnosed as growing pains, but rather should herald a thorough investigation for causes of articular pain, such as infection, neoplasm, connective tissue diseases, and orthopedic and endocrine disorders.
Growing pains may occur during the day or evening, and occasionally may awaken the child from sleep. In contrast to patients with JRA, these children are usually asymptomatic in the morning. Continue reading »
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