Differentials
Coagulopathy
SIGNS / SYMPTOMS
Family history of easy bleeding following dental extractions or postoperatively. Other presentations include prolonged epistaxis, bleeding from circumcision, or bleeding from umbilical cord stump.
Use of medications which affect platelet function or coagulation.
History of recent viral illness.
Osteogenesis imperfecta (OI) and other bone fragility disorders
SIGNS / SYMPTOMS
Type I (mild) and type IV (moderate-to-severe) OI: recurrent fractures in infancy and childhood; associated with dentinogenesis imperfecta (discoloured teeth) and joint laxity. Type 1 frequently has associated blue sclera.
Type II (lethal) and type III (severe, progressively deforming) OI: easily diagnosed clinically and radiologically due to the severity.
Other subtypes are exceedingly rare.
There may be a family history of the disease or of recurrent fractures, deafness, or hernias.
INVESTIGATIONS
X-ray reveals wormian bones, reduced bone density, and evidence of multiple fractures.
Most (>95%), but not all, subtypes can be detected by mutation analysis and/or skin biopsy.[64]
Glutaric aciduria
SIGNS / SYMPTOMS
A metabolic disorder that may be asymptomatic for some time after birth. Symptoms develop during an intercurrent illness and are those of lethargy and neurological impairment.
Co-existent subdural haemorrhages have been reported.
INVESTIGATIONS
Organic acid analysis shows marked glutaric aciduria and increased 3-hydroxyglutaric acid.
CT scan shows evidence of temporal lobe wasting, with 'bat-wing appearance' a common finding.
Definitive diagnosis is from glutaryl-CoA dehydrogenase analysis in fibroblasts.
Rickets of prematurity
SIGNS / SYMPTOMS
History of prematurity and of prolonged total parenteral nutrition (TPN) and/or diuretics.
May be other co-existent disease or prolonged nutritional deprivations precipitating rickets.
INVESTIGATIONS
Diagnosis is clinical; radiographical evidence necessary.
Phytophotodermatitis
SIGNS / SYMPTOMS
Appears after skin has been in contact with a psoralen (e.g., from plants such as rue, citrus fruit juices, perfumes, bergamot oil) and then exposed to sunlight.
The key is a precise history, as the lesions appear "spontaneously" and may be mistaken for scalds or bruising.
INVESTIGATIONS
Diagnosis is clinical.
Impetigo
SIGNS / SYMPTOMS
Lesions are crusting and new lesions keep cropping. In particular, new lesions appear following contact with another area of affected skin (e.g., lesion on the arm touching the trunk).
Lesions may have an appearance similar to cigarette burns.
INVESTIGATIONS
Skin swabs will confirm the presence of a bacterial pathogen.
Mongolian blue spot
SIGNS / SYMPTOMS
Also known as congenital dermal melanocysotis.
Can occur anywhere on body, most commonly on the buttocks. Frequently found in children of Asian or southern Mediterranean origin.
Diagnosis relies on genetic susceptibility of child, presence since birth, absence of tenderness or induration, and no change in colour over succeeding days.
INVESTIGATIONS
Diagnosis is clinical.
Coining
SIGNS / SYMPTOMS
A traditional remedy used in Southeast Asia, so a history of using traditional remedies is key to the diagnosis.
Linear marks, usually found on the back or chest and appearing over the part of the body giving rise to symptoms (e.g., appearing over chest if the child has a cough). They may also be noted in a collapsed child following resuscitative efforts.
INVESTIGATIONS
Diagnosis is clinical.
Moxibustion
SIGNS / SYMPTOMS
A traditional remedy, so a history of using such remedies is key to the diagnosis.
Characteristic multiple, circular, erythematous or superficial burns found around the umbilicus or chest following burning the moxa herb on the skin (although variations may be performed).
Marks are found over the part of the body giving rise to symptoms (e.g., the abdomen if the child has abdominal pain/vomiting).
INVESTIGATIONS
Diagnosis is clinical.
Vitamin K deficiency
SIGNS / SYMPTOMS
May present with widespread central nervous system, gastrointestinal, or skin bleeding.
History of no vitamin K prophylaxis after birth (particularly in breastfeeding mothers) aids the diagnosis.
INVESTIGATIONS
Diagnosis is clinical. PT and activated PTT both prolonged in actively bleeding infants. Vitamin K levels not informative for infants because naturally low after birth.
PIVKA (proteins induced by vitamin K absence) test confirms diagnosis.
Use of this content is subject to our disclaimer