Category Archives: Clinical

Prader Willi syndrome

Clinical, Community, General paediatrics, Genetics, Neurology, Nutrition, OPD

Chromosome 15q11 related. Results from deletion of paternal copy of imprinted gene (the rare genes where the copy from one parent is turned off by DNA methylation). See also Angelman syndrome (also chromosome 15).

Beware pregnancies with Trisomy 15 where subsequent testing looks like normal diploid…

Classically severe hypotonia at birth, often with mild growth restriction, causing significant feeding difficulties.

Facial appearance characteristic even at birth: high forehead, narrow bifrontal diameter, downturned corners of the mouth, micrognathia, and dysplastic ears. As they age, almond eyes become apparent, face is rather unexpressive of course. Hands are small.

After age 1, ironically, appetite then seems to surge, leading to obesity.

Scottish genomic test directory says test if:

  • Severe hypotonia and/or feeding difficulties in early infancy;
  • Global developmental delay;
  • Hypogonadism;
  • Excessive eating with central obesity if uncontrolled in childhood

Fetal alcohol syndrome

Cardiology, Clinical, Community

Salford study in 2021 found 1.8% rate in school (3.6% including possible cases) when actively sought – none of whom had previously diagnosed developmental problem. Estimated 2-4% in population.

Cognitive impairment, ADHD/impulsivity, visual/hearing impairments, physical complications.

SIGN guideline 156 (and now NICE).

Assess –

  • Alcohol exposure
  • Facial features (3 “sentinel” – small eyes, smooth philtrum, thin upper lip) – computer based tools available.
  • Brain pathology (growth ie OFC else scan)

Confirming alcohol exposure can be tricky – ED attendances? Blood alcohol levels? Police involvement? Using self completed form perhaps more reliable than saying face to face. Diagnosis can be made without good history if all 3 facial features present.

No safe limit for alcohol exposure in pregnancy. “When did you find out you were pregnant?”

Assess facial photo when NOT smiling! Other features are hirsutism, epicanthic folds, clown eyebrows, ptosis, flat nasal bridge.

Brain domains – need 3 or more. Neurodevelopmental and speech/language and sensory integration (occupational therapy) assessment. Only valid in school age children. So diagnosis in preschool only possible if microcephaly or similar.

Diagnosis is FASD +/- sentinel facial features, or “at risk” indeterminate (because too young to do proper assessment, for example).

Management

SPECIFIC parenting course developed in Salford.

National organisation for FASD has algorithms etc.

Congenital cataracts

Clinical, Congenital, General paediatrics, Genetics, Neonatology

Differential:

  • Varicella
  • Rubella
  • CMV
  • Toxoplasmosis
  • HSV
  • Syphilis, HIV
  • Genetic non syndromic – various
  • Syndromes – Downs/Patau
  • X-linked Lowe syndrome (LD and proximal tubular dysfunction)
  • Autosomal dominant myotonic dystrophy (various eye problems), Neurofibromatosis type 2
  • Zellweger (includes neonatal adrenoleukodystrophy and infantile Refsum) – peroxisomal
  • Galactosaemia, Cockayne syndrome

Rashes affecting palm/soles

Clinical, Dermatology, General paediatrics

A short sweet list.

Acutely, Hand-Foot-Mouth (Coxsackie, or another enterovirus) is the most common. Measles can affect your palms/soles but would be everywhere…

Gianotti-Crosti syndrome typically affects hands.

Kawasaki and Toxic shock prior to desquamation.

Chronically, Scabies, pompholyx (type of eczema), Pustular psoriasis, Secondary syphilis, Janeway lesions (endocarditis).

Anterior fontanelle

Clinical, Common, General paediatrics

Typically closes around 12 months of age. Can be bulging (meningitis?), sunken (dehydration), pulsatile (normal!), large (hypothyroidism), small (craniosynostosis). But actually not very predictive of any of these things in isolation.

For example – in Brazilian study of babies with craniosynostosis compared with babies with fontanelle that closed by 6 months, only 36% sensitive for craniosynostosis, and positive predictive value 59%. [https://doi.org/10.1016/j.jped.2021.10.004]

Proctalgia

Clinical, Gastro, General paediatrics

=anal pain.

Rule out anal fissure (may be hard to see but bleeding or sentinel pile are clues, typically caused by constipation), thrombosed haemorrhoid, infection.

After that, functional (see Rome criteria)- often triggered by defaecation or sitting.

Classifed as acute (less than 20 mins – “fugax”) or chronic (greater than 20 mins episodes). Latter thought to be due to paradoxical pelvic floor contraction.

Biofeedback has best evidence but consider tricyclic antidepressants, Botox, and sacral nerve stimulation (!).

Laryngomalacia

Clinical, General paediatrics, Respiratory

Intermittent squeaky inspiratory noise from collapsing larynx during respiration. Usually from birth.

Often worse when lying on back, or with colds, or with reflux (vomits).  Worse if hypognathia eg Pierre-Robin sequence.

Clinical diagnosis usually. Settles in first few months of life.

Will need intervention if significantly increased work of breathing, cyanosis or apnoeas, or growth failure.

Pyrexia of Unknown Origin

Clinical, General paediatrics, Immunology, Infectious disease

A technical term, not just a fever without obvious source! Essentially presence of confirmed fever for 8 days or more in a child in whom a careful thorough history and physical examination, and preliminary laboratory data fail to reveal a probable cause.

Long list of possible causes, long lists of possible tests – do thorough history and repeated examinations, then follow the clues!

In kids, infection is the commonest cause. But can be connective tissue disorder, or malignancy.

Beware factitious fever – admission sensible.

If possible, stop all drugs. Antipyretics may obscure the pattern of fever, and can occasionally be its cause (drug fever is one cause).

Unless the child is critically ill, try not to give antibiotics. If the diagnosis remains obscure, go back and take the history again, examine the child (fully) again, send the specimens again!

Special points in history/examination

  • Travel – malaria can present 6-12 months later. Typhoid.
  • Ethnicity – tuberculosis
  • Outdoor activities – rats/ticks as vectors of infectious diseases
  • Animal contact – cows/sheep (brucellosis), cats (cat scratch)
  • Mouth ulcers (IBD, Behcets, PFAPA)
  • Periodicity – see Periodic fever
  • Sinus tenderness, nasal congestion (sinusitis)
  • Bone/spine tenderness – discitis, vertebral osteomyelitis

Tests

  • 3 sets of blood cultures, different sites, different times (at least a few hours apart), off antibiotics – standard for endocarditis
  • ASOT
  • EBV, CMV
  • LDH, CK
  • ANA/RF
  • Urine/stool culture
  • Swab everything!

[Rosie Hague, Current peds 2001]

Hypokalaemia

Clinical, General paediatrics, Neurology, Renal

Could be reduced intake but usually excessive losses –

RenalNon-renal
Renal tubular acidosis (type 1 or 2)Vomiting eg pyloric stenosis
Bartters or Gitelmans syndromeDiarrhoea
DiureticsLaxative overuse
Hyperaldosteronism (CAH, tumour)Thyrotoxicosis
Salbutamol
Familial periodic paralysis
Pseudo-Bartter’s
Trauma
Diabetic ketoacidosis

Symptoms depend on severity and how rapidly decrease has happened. Chronic low levels are better tolerated. Since potassium important for membrane potentials, effects are mostly neuromuscular.

  • Cramps, weakness, paralysis
  • Ileus
  • Metabolic acidosis (although underlying cause often produces alkalosis)
  • Arrhythmia, heart failure
  • Rhabdomyolysis

ECG classically shows U waves, T wave flattening, and ST-segment changes. Can be tall wide P waves, can look like long QT if T and U waves merge.

Do urine and blood electrolytes to look at fractional excretion.

[Endocrine connections 2018][Current Treatment Options in Peds 2022]

Gynaecomastia

Clinical, Endocrinology, General paediatrics

Common in newborns, presumably due to maternal hormones. Bud underneath the surface, plus swelling of areola/nipple area.

Another peak around puberty, can be unilateral, can be tender. Can progress to be cosmetically problematic.

Exclude a hormonal problem (including prolactinoma and other hormonal tumour):

  • Prepubertal
  • Delayed puberty with no development of penis/testes, no axillary/pubic hair
  • Galactorrhoea
  • Testicular mass