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Clinical Reasoning: a Tale of a Hypotonic Infant Fouad Al-Ghamdi and Partha S

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Clinical Reasoning: a Tale of a Hypotonic Infant Fouad Al-Ghamdi and Partha S RESIDENT & FELLOW SECTION Clinical Reasoning: Section Editor A tale of a hypotonic infant John J. Millichap, MD Fouad Al-Ghamdi, MD SECTION 1 further recurrence. She was extubated after 4 days. Partha S. Ghosh, MD An 11-month-old girl was referred to our center for She had significant swallowing dysfunction requiring evaluation of hypotonia and developmental delays. nasogastric tube feeding. She was the only child of her She was born at term via cesarian delivery because parents and there was no family history of neurologic Correspondence to of breech presentation. Fetal movements were disorders or early unexplained death. Dr. Ghosh: reduced during pregnancy. Delivery and immediate [email protected] Questions for consideration: or Dr. Al-Ghamdi: postnatal events were uneventful. Her birth weight fouad.alghamdi@childrens. was low (2.5 kg). However, at 4 hours of life, she 1. What is the differential diagnosis of a hypotonic harvard.edu developed respiratory distress requiring intubation. neonate? She had 2 brief episodes of right upper extremity 2. What tests would you consider to help narrow twitching on day one following intubation without your differentials in this case? GO TO SECTION 2 From Boston Children’s Hospital (F.A.-G., P.S.G.), MA; and King Fahad Specialist Hospital (F.A.-G.), Dammam, Saudi Arabia. Go to Neurology.org for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article. © 2016 American Academy of Neurology e11 ª 2016 American Academy of Neurology. Unauthorized reproduction of this article is prohibited. SECTION 2 The child was lethargic at birth, and brief episodes On reviewing medical records from the outside hospi- of right upper extremity twitching were concerning tal, it was noted that she had generalized hypotonia, for seizures, so a central cause of hypotonia cannot poor spontaneous movements of the limbs, and be ruled out. EEG did not disclose any epileptiform reduced tendon reflexes. She was initially lethargic activity. Poor spontaneous movements and reduced but subsequently was more awake. She had swallow- tendon reflexes, however, suggested more of a periph- ing dysfunction but there was no ptosis, extraocular eral cause of hypotonia. movement abnormalities, or tongue fasciculations. Creatine kinase (CK) is a very helpful screening Evaluation of a floppy or hypotonic infant is test to detect myopathy in children with hypotonia. challenging for a child neurologist. Hypotonia is She had high CK (2,787 U/L; normal 30–279 U/L) broadly classified into 2 categories: central (supra- on her second day of life. Among the peripheral segmental) and peripheral (segmental/motor unit).1 causes of hypotonia with high CK at birth, congen- However, this distinction is arbitrary and frequently ital muscular dystrophy (CMD) tops the list of dif- there is overlap of clinical features in a sick neonate. ferentials.1 Other myopathies associated with high Sometimes follow-up examinations are very helpful CK at birth are congenital myopathies (typically CK to establish a diagnosis in a hypotonic child. Sys- values are not very elevated) and some metabolic temic illnesses such as sepsis, hypoxic-ischemic myopathies (e.g., Pompe disease).1 Some muscular encephalopathy, cardiac failure, and electrolyte dystrophies (dystrophinopathies and some forms of and metabolic disturbances are common causes of limb girdle muscular dystrophy) can also present central hypotonia.1 Other causes of central hypoto- with high CK at birth although they typically do nia are brain malformations, various genetic/meta- not present with hypotonia in the neonatal period.1 bolic disorders (e.g., Down syndrome, Pompe Brain MRI on the third day of life was reported as disease), and spinal cord injury.1 The motor unit T2-weighted hyperintense signals in the white mat- hypotonia involves disorders of the anterior horn ter of both cerebral hemispheres with frontoparietal cell, peripheral nerve, neuromuscular junction, predominance, disorganized appearance of the infe- and muscle (table). rior cerebellar folia, and abnormal sulcal gyral There was no evidence of septicemia or gross elec- pattern in both the cerebral hemispheres. Malfor- trolyte or metabolic abnormalities. She had an elec- mations of cortical development or white matter tive cesarian delivery and there were no immediate changes on neuroimaging are common in children postnatal complications, making hypoxic-ischemic with certain variants of CMD (merosinopathies encephalopathy less likely. She had a normal ECG [merosin-deficient CMD] and dystroglycanopathies and echocardiogram ruling out cardiac involvement. [Fukuyama, Walker-Warburg, muscle-eye-brain Table Common causes of neonatal/infantile hypotonia Type of hypotonia Clinical conditions Investigations Central (suprasegmental) hypotonia Systemic illness (sepsis, meningitis, electrolyte Workup for sepsis, blood count, cultures, electrolytes disturbances) Normal muscle strength Hypoxic ischemic encephalopathy Brain MRI, EEG Preserved or brisk tendon Inborn errors of metabolism Blood, CSF, and urine tests for metabolic disorders reflexes Altered sensorium Cardiac failure ECG, echocardiogram Brain malformations Brain MRI Genetic syndromes (Down syndrome, Prader-Willi syndrome, Genetic studies and others) Spinal cord injury Spine MRI Peripheral (segmental/motor unit) Anterior horn cell disorder (e.g., spinal muscular atrophy type 1: EMG (neurogenic changes), genetic studies Werdnig-Hoffmann disease) Reduced muscle strength Peripheral nerve disorders (e.g., hypomyelinating neuropathy, EMG (peripheral neuropathy), genetic studies Dejerine-Sottas disease) Diminished or absent tendon Neuromuscular junction disorders (e.g., transient neonatal EMG (repetitive nerve stimulation and single-fiber EMG reflexes myasthenia, congenital myasthenic syndrome, infantile botulism) studies), anti-acetylcholine receptor antibodies in transient myasthenia, genetic studies for congenital myasthenic syndrome, toxin assay in botulism Normal sensorium Muscle disorders (e.g., congenital myopathy, congenital muscular EMG (myopathic EMG), muscle biopsy, genetic studies dystrophy, Pompe disease, congenital myotonic dystrophy)2 e12 Neurology 87 July 12, 2016 ª 2016 American Academy of Neurology. Unauthorized reproduction of this article is prohibited. disease]).2 Based on the above findings, a provisional workup including thyroid function testing, serum diagnosis of CMD was considered. Seizures can be amino acid profile, lactate, and acylcarnitine were a clinical manifestation in children with CMD due normal. to underlying brain malformations. Swallowing Question for consideration: assessment demonstrated a moderate to severe oral-pharyngeal dysphagia, with frequent laryngeal 1. What further testing would you consider to obtain penetration and direct aspiration. Metabolic a diagnosis? GO TO SECTION 3 Neurology 87 July 12, 2016 e13 ª 2016 American Academy of Neurology. Unauthorized reproduction of this article is prohibited. SECTION 3 continued to have poor weight gain and swallowing EMG can be helpful in narrowing the differential dysfunction and underwent gastrostomy-tube place- diagnosis of peripheral causes of hypotonia, although ment at 7 months. At the same time, she had left neonatal EMG is technically challenging and some- vastus lateralis muscle biopsy, which did not show times difficult to interpret. Targeted genetic testing any evidence of myopathy or neurogenic atrophy. often identifies causative mutations, characteristic Subsequently, she was referred to us for further eval- phenotype, or MRI appearance.2 However, as there uation. At age 11 months, she had global developmen- was no clear pattern in this case, the sequencing and tal delays pertaining to motor, language, and social deletion/duplication panel for CMD was sent, which milestones. She started gaining weight after 8 months did not detect any known pathogenic variants. The of life. Her weight was 10.1 kg (73rd percentile), genes that will be of interest in this case with possible height 71 cm (20th percentile), and head circumfer- CMD, high CK, and brain imaging abnormalities are ence 45.5 cm (66th percentile). She had dysmorphic LAMA2 (merosin-deficient CMD), Fukuyama CMD facial features: almond-shaped eyes, upturned nose, (FKTN), Walker-Warburg syndrome (POMT1, tented and thin upper lip, and small chin (figure). POMT2, POMGNT1, FKRP, LARGE), and muscle- She had mild diffuse hypotonia with good antigravity eye-brain disease (POMGNT1, FKRP).2 On follow-up movements in the arms and legs and normal tendon neurologic evaluation at the outside hospital at 2 reflexes. CK was checked and was found to be normal. months of age, there were no obvious dysmorphic Question for consideration: features; she continued to have diffuse hypotonia but her muscle strength improved. The child 1. What diagnostic testing will confirm the diagnosis? Figure Patient photograph. GO TO SECTION 4 Dysmorphic facial features: almond-shaped eyes, upturned nose, tented and thin upper lip, and small chin. e14 Neurology 87 July 12, 2016 ª 2016 American Academy of Neurology. Unauthorized reproduction of this article is prohibited. SECTION 4 developmental delay, intellectual disability, speech Salient points in her history and examination at this articulation defect, autistic spectrum disorder, behav- point were global developmental delays, low birth ioral issues, including obsessive-compulsive disorder, weight, failure to thrive followed later
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