Fructose-1,6-diphosphatase deficiency
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop in Atlas of Inherited Metabolic Diseases, 2020
There may be convulsions or other manifestations of hypoglycemia. There may be flushing [2], or pallor and sweating. Vomiting may be complicated by hematemesis [14, 15]. Hypotonia and muscle weakness have been observed. The electroencephalograph (EEG) may be abnormal during the acute attack and normal later. Fast spindle-shaped bursts on a slow amplitude pattern have been described [2], as well as a slow-wave pattern [16]. Intellectual development is usually normal (Figures 49.2 and 49.3). Of course, impaired mental development, as well as death may accompany neonatal or early infantile hypoglycemic crises, but fasting tolerance improves with age, and patients normal by childhood usually develop normally. In addition to the lactic acidemia, analysis of the blood reveals increased concentrations of alanine and uric acid [17]. In some attacks, there may be acidosis without hypoglycemia. Glycerol and glycerol-3-phosphate have been found in the urine [18, 19].
Nutrition
Jagdish M. Gupta, John Beveridge in MCQs in Paediatrics, 2020
2.21. A child with moderate malnutrition following a chronic diarrhoeal illness is likely to havea greater fall off in length centile than of head circumference centile.muscle hypotonia.loss of turgor.hyperkalaemia.iron deficiency anaemia.
Examination C
Aalia Khan, Ramsey Jabbour, Almas Rehman in The New DRCOG Examination, 2017
Muscle hypotonia is characteristic. A round head with a flat facial profile, dysplastic ears, blunt inner eye angles, broad hands with a single palmar crease and an incurving 5th digit are other features of Down’s syndrome. Brushfield’s spots are on the periphery of the iris.
OTX2 mutation associated with severe myopia in a Canadian family
Published in Ophthalmic Genetics, 2021
Snow Wangding, Samantha Colaiacovo, Inas Makar, Maha Saleh
Our patient is the second child to non-consanguineous parents of English and Irish ancestry. She was born at 42 weeks and 3 days by natural delivery. Her mother had no major complications during pregnancy, aside from bleeding at 32 weeks which was resolved and Group B streptococcus, treated with antibiotics. The patient had no complications at birth. At two months old, she was admitted to the hospital for treatment of unrelated pneumonia. Physical exam showed conjugate, abnormal eye movements, torticollis and hypotonia. Neurology was involved due to the hypotonia; however, brain magnetic resonance imaging (MRI) and creatine kinase levels were normal. After physiotherapy and follow-up, her hypotonia normalized. Following negative blood cultures and nasopharyngeal swab, the patient was discharged.
Classification of Congenital Zika Syndrome: Muscle Tone, Motor Type, Body Segments Affected, and Gross Motor Function
Published in Developmental Neurorehabilitation, 2021
Janiele de Sales Tavares, Gabriela Lopes Gama, Marcia Cristina Dias Borges, Agda Cristina de Sousa Santos, Jousilene de Sales Tavares, Melania Maria Ramos Amorim, Adriana Melo
Bodensteiner et al.24 stated that hypotonia is difficult to classify and is mostly identified at the end of the first year of life. Hypotonia can be associated with lesions to the suprasegmental or segmental structures of the CNS. In the case of suprasegmental lesions, hypotonia is generally associated with widespread injury to the CNS including the basal nuclei and the red nucleus, the cerebellum and precentral gyrus, commonly resulting in clinical signs such as delayed cognitive development, convulsions and hyperreflexia.31 This is commonly associated with severe motor impairment, hampering possible differentiation between hypotonia and muscle weakness. Remarkably, lesions to the cerebellum and basal nuclei are characteristic of CZS, supporting the hypothesis of hypotonia.
Co-occurrence of incontinentia pigmenti and down syndrome: examining patients’ potential susceptibility to autoimmune disease, autoinflammatory disease, cancer, and significant ocular disease
Published in Ophthalmic Genetics, 2021
David C. Gibson, Natario L. Couser, Kayla B. King
Physical examination showed a well-nourished infant. Facial features included epicanthal folds, up-slanted palpebral fissures, flat nasal bridge, and a large protruding tongue. Ocular examination revealed bilateral astigmatism. There were no lid, conjunctival, scleral, or corneal lesions. Fundus examination was unremarkable and showed normal vasculature. There was no strabismus or nystagmus present. Neurological examination revealed no global or focal deficits; however, musculoskeletal examination revealed mild hypotonia. A large umbilical hernia was noted upon abdominal examination, but there were no other masses or hepatosplenomegaly present. The rest of the physical examination was normal besides upper airway stridor and a soft 1–2/6 ejection murmur upon auscultation of the neck and thorax.
Related Knowledge Centers
- Motor Nerve
- Muscle Weakness
- Muscle Tone
- Brain
- Infant
- Medical Diagnosis
- Idiopathic Disease
- Physical Therapy
- Occupational Therapy
- Afferent Nerve Fiber