Diastasis Recti in newborns

A vertical bulge down the midline of the abdomen can be seen in many newborns when intra-abdominal pressure increases. In this photo, a shadow lateral to the bulge can be seen going up the left side of the abdomen, starting near the umbilical clamp. Diastasis recti is caused by a relative weakness of linea alba "the fascia between the two rectus abdominus muscles".
It is essentially a cosmetic condition, with no associated morbidity or mortality .As it is not a herniation and is not pathologic, No treatment is needed ..... with time, this will disappear.

Another newborn has more pronounced diastasis recti. Spontaneous resolution is still expected. 

Review this baby; IS IT A BOY OR A GIRL?

History

A midwife calls the neonatal intensive care unit asking for an urgent review of a baby born 10 minutes ago. At delivery they thought it was a boy and said this to the parents. Now they are not so sure because although the baby appears to have a penis, there is no obvious scrotum and they cannot feel the testes. The baby seems otherwise normal and there was nothing remarkable about the pregnancy. It is the parents’ first child.

Examination

There are no dysmorphic features and examination of the cardiovascular, respiratory and abdominal systems are normal. The weight is 3.1 kg. There is a 1.5 cm phallus (normal in term newborn males 2.5 cm) with a single perineal opening at the base of the phallus "which is a penis-shaped object such as a dildo, or a mimetic image of an erect penis". There is pigmentation of the labioscrotal folds, which are fused with no obvious vaginal opening. There are no palpable gonads, including in the inguinal canals. The anus is normally positioned. The baby’s external genitalia can be seen in the figure below.

 Questions Are :

•  Is this a boy or a girl?
•  What is the most likely diagnosis and the differential?
•  What investigations are needed?

Case Discussion

At this stage, no one can or should say whether this baby is a boy or a girl. It is imperative not to guess as it could be either a virilized female (a normal girl exposed in utero to excess androgens) or an undervirilized male. Disorders of sexual differentiation (DSD) are a medical and social emergency and families find it exceptionally difficult not knowing the sex of their baby. Pending urgent tests they should not name the baby or register the birth.
In the absence of palpable gonads, but with evidence of virilization with a small phallus and pigmentation, it is most likely that this is a virilized female. Much the commonest aetiology is congenital adrenal hyperplasia (CAH).

If the baby is an undervirilized male,there is a much larger differential, including disorders of gonadotrophin production (e.g. Kallman syndrome), defects of testosterone synthesis and end-organ insensitivity due to androgen receptor abnormalities. With very severe undervirilization, it is possible that the sex of rearing should be female. Such babies need urgent referral to a specialist centre with a team of endocrinologists, urologists, geneticists and psychologists.

Congenital adrenal hyperplasia is a group of autosomal recessive inborn errors of metabolism (IEM) (therefore commoner if parents are consanguineous), within the adrenal steroidogenic pathways that produce mineralocorticoids (aldosterone), glucocorticoids (cortisol) and androgens (testosterone). 95 % of cases are due to 21-hydroxylase deficiency (21-OHD) that catalyses late steps in the first two pathways. The consequences are the same as for any IEM – deficiency of the end product, continued drive through the pathway, build-up of precursors and diversion down alternative pathways. Lack of cortisol causes hypoglycaemia and a poor stress response. Elevated precursors divert to the androgen pathway and testosterone virilizes both male and female fetuses. Most babies are also aldosterone-deficient. Those missed at birth (usually virilized boys) classically present in the second week of life with a salt-wasting (Addisonian) crisis – vomiting and shocked with severe hyponatraemia, hyperkalaemia and acidosis.
Patients with 21-OHD need lifelong steroid replacement, initially with hydrocortisone and fludrocortisone (a mineralocorticoid analogue), and endocrine monitoring.

The timing of any surgery to reduce clitoromegaly and create a vaginal orifice is controversial.

*Investigations in the first few days consider the differential diagnosis and monitor for complications:
• karyotype – result in 48 hours if laboratory warned
• pelvic and abdominal ultrasound – extremely helpful and immediately available
• 17-hydroxyprogesterone – sent after 48 hours as raised in all newborns
• full male hormone profile
• urine steroid profile – confirms site of block in steroidogenic pathway
• electrolytes and glucose – from day 2; monitor bedside glucose
• plasma renin activity – best estimation of salt status.

KEY POINTS

1- Never guess the sex of a newborn baby with abnormal genitalia.
2- Virilization of a female infant is almost always congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Criteria of growing pains

A 12-year-old obese boy presents to your office complaining of bilateral leg pain that occurs only at night. His mother denies any pain during the day and reports he has not had a limp. The most likely diagnosis is :

A) slipped capital femoral epiphysis
B) Legg-Calve-Perthes disease
C) Osgood Schlatter's disease
D) patellofemoral syndrome
E) growing pains

Answer and Discussion

The answer is E.
A diagnosis of growing pains must meet three criteria:
(1) the leg pain is bilateral;
(2) the pain occurs only at night; and
(3) the patient has no limp, pain, or symptoms during the day.
To inaccurately diagnose a limping child with growing pains can be dangerous, as the physician risks missing the underlying pathology. However, if a child does fit the criteria for growing pains, the parents should be reassured that this is a benign, self-limited process that occurs for unknown reasons.

Mottled skin or Cutis Marmorata in neonates

Cutis marmorata or "marbled skin" refers to mottled skin, typically in newborns in the first few months of life.
This reticulated pattern of constricted capillaries and venules is often called "mottling" due to vasomotor instability in immature infants. It generally resolves with increasing age and for most infants is of no significance.

Explanation of cutis marmorata :

This phenomenon is caused by instability or immaturity of the nerve supply to the superficial capillary blood vessels in the skin. This causes the blood vessels in some regions of the skin to dilate, producing a red color of the skin, while other regions are contracting, producing pale skin.

In spite of it`s insignificance in most babies ,it may reflect underlying poor perfusion and infants who develop mottling and are unwell need to be clinically evaluated for sepsis and other illnesses.

Cutis Marmorata Telangiectatica Congenita :

Reticular skin lesions on the right arm of a 7-y girl

It is localised , marked and more pronounced form of cutis marmorata which may be associated with other defects. It is uncommon and sometimes called (congenital generalized phlebectasia)
cutis marmorata telangiectatica congenita is often reported in association with a variety of other congenital anomalies, the most common anomaly associated is Body asymmetry.

Recurrent Abdominal Pain of Children

ALCOHOL as Teratogen :Fetal Alcohol Syndrome

In many countries alcohol is the Most common teratogen.And the severity of spectrum of effects in the neonate correlates with the amount of alcohol consumed , ranging from mild reduction in cerebral function to classic fetal alcohol syndrome .

Facial features of Fetal Alcohol Syndrome (FAS)

* Microcephaly - leads to small head circumference
* Palpebral fissure - short opening of eye
* Epicanthal folds - fold of skin at inside of corner of eye
* Midface - flat
* Nasal Bridge - low
* Philtrum - Indistinct, vertical grooves between nose and mouth
* Upper Lip - thin
* Micrognathia - small jaw
* Ears - curve at top part of outer ear is underdeveloped and folded over parallel to curve beneath. Gives the appearance of a "railroad track"

It also associated with :
#Mild to severe mental retardation resulting in learning difficulties.
#Low birth weight and height that persists through early childhood.
#Abnormalities of the heart and other organs.

Fetal Alcohol Syndrome. Notice the depressed nasal bridge, flat philtrum, long upper lip, and thin vermillion border.

Strategies Against Childhood Obesity

Acute Upper Airway Obstruction (Epiglottitis Vs Croup)

Most children who present to the hospital with acute upper airway obstruction have croup (acute laryngo- tracheobronchitis) or epiglottitis. Other differential diagnoses include bacterial tracheitis, foreign body inhalation and angioneurotic oedema.

You have to assess severity by examination of

• constitutional state (toxicity, fever, pulse rate)
  
• stridor
  
• drooling
  
• cough
  
• speech
  
• tachypnoea
  
• tracheal tug on inspiration
  
• intercostal and subcostal indrawing on inspiration
  
• asynchrony of chest and abdominal wall movement
  
• cyanosis in air

Guidelines For The Diagnosis Of Croup And Epiglottitis:

Note: Each of these clinical signs in isolation is a poor discriminator however, considered together, they usually allow the correct diagnosis to be made.

Important Notes

1. All children with stridor must be reviewed by the paediatric admitting officer before discharge home or admission to the ward.
2. If the child is cyanosed he is likely to die very quickly -notify paediatric ICU immediately. The aim is to transfer severely obstructed children to ICU before intubation becomes imperative, as it is preferable to intubate them in ICU.
3. as a child becomes physically exhausted the stridor, indrawing and air entry may decrease.

Azithromycin is the treatment of choice for Bordetella pertussis

Which of the following medications is considered the treatment of choice for Bordetella pertussis infection?

• A) Penicillin
• B) Ciprofloxacin
• C) Azithromycin
• D) Tetracycline
• E) Cefuroxime

Answer and Discussion

Recent epidemiologic studies have shown that the incidence and prevalence of Bordetella pertussis infection in adults are much greater than previously reported. In studies of adults with chronic cough, 20% to 25% were found to have serologic evidence of recent B. pertussis infection. However, pertussis is rarely considered in adults because the signs and symptoms are nonspecific.

Apart from a prolonged cough, there are no specific symptoms suggestive of pertussis in older individuals who have been immunized. With this in mind, pertussis should be considered in the differential diagnosis of persistent cough in previously immunized children and adults.

-Administration of erythromycin or other macrolide (azithromycin or clarithromycin) may be a consideration in patients presenting with persistent cough. Prophylaxis of exposed persons before culture or serologic results are available would be another consideration. Early treatment with a macrolide should limit the spread of infection to persons whose immunity has waned or in unimmunized children. The acellular vaccine may allow booster immunization, which can be a method of preventing B. pertussis infection after immunity from the pertussis vaccination has waned.
So;The answer is C.

Koplik’s spots as described

This was a patient who presented with Koplik’s spots on palate due to pre-eruptive measles on day 3 of the illness. Measles is an acute, highly communicable viral disease with fever, conjunctivitis, coryza, cough, and Koplik spots. Koplik spots are ..............

READ MORE............................>>

USMLE Pass Program Video Lectures (2010) - Pediatrics

About the PASS Program:

The PASS Program was created in 1988 and officially opened for business in the year 2000. This program is different from any other program in this country. It teaches integrated thinking so that a medical student can answer any question asked at any level. It does not, and should not, matter whether a student is taking the USMLE 1, USMLE 2, or USMLE3. The information that is covered in this program is so high yield and so highly integrated that it is relevant on all exams, even board certification exams. Because of this unique format, we have been able to help students achieve the highest pass rates, as well as the highest passing scores, on all of the USMLE exams.

The mission of the PASS PROGRAM:

The mission of the PASS PROGRAM is to inspire, encourage and empower medical students and physicians who enter our doors. We will not only teach them the basic medical sciences, but we will teach them how to clinically integrate their knowledge. In other words, we will encourage them not to merely memorizemedical information , but empower them to clearly and clinically master that knowledge. We will maintain a positive learning environment at all times so that no student will feel ashamed or be embarrassed of his or her academic situation. For, in the end, our true mission is to show other medical institutions that even when a student may not look so promising with a poor academic history, with the individualized teaching sessions we have with all of our students, most of them can be helped to develop into academically strong, spiritually empowered, and outstandingly confident clinical physicians. With God as our inspiration, this will always be our mission.

The clarity and simplication of the explanations of certain key concepts are second to none. You will understand and retain the specificities of the pathophysiology of the most high yield disease processes that you will be tested on. You will also be provided with test taking skills that will enable you to quickly recognize distractors and clues. Over 71 hours of Live lecture by Dr. Francis.

CLASS ONE - CLASS TWO - CLASS THREE

Port wine stains and Associations

Port wine stains (PWS) are almost always evident at birth and are a capillary malformation. They are usually sporadic, although some occur in families in an apparently autosomal dominant inheritance. They are initially pink or red, and grow in proportion to infant growth. Although they may appear to lighten in the first few months, they generally darken after this.

They can be associated with other skin anomalies such as extensive mongolian spots. An important association is Sturge-Weber syndrome ( PWS+mental retardation ): PWS involving the forehead (V1 area of the trigeminal nerve), eye abnormalities (choroidal vascular abnormalities, glaucoma), and leptomeningeal and brain abnormalities (vascular malformations, calcification, or cerebral atrophy). Another association is Klippel-Trenaunay syndrome, with a capillary malformation and overgrowth of the soft tissue and bone of the affected limb.

Treatment of PWS is possible using a laser, although improvement rather than complete resolution is most common.

Assessment of Head injuries in children

Perform a primary survey and ensure that the child’s airway, cervical spine, breathing and circulation are secure.

Rapidly assess the child’s mental state using the AVPU scale. Use firm supraorbital pressure as the painful stimulus.

* A Alert
* V Responds to voice
* P Responds to pain
----> Purposefully
----> Non-purposefully :

•  Withdrawal/flexor response
•  Extensor response

* U Unresponsive
Assess pupil size, equality and reactivity and look for other focal neurological signs.

Perform a secondary survey looking specifically at:

* Neck and cervical spine – deformity, tenderness, muscle spasm
* Head – scalp bruising, lacerations, swelling, tenderness, bruising behind the ear (Battles sign)
* Eyes – pupil size, equality and reactivity, fundoscopy
* Ears – blood behind the ear drum, CSF leak
* Nose – deformity, swelling, bleeding, CSF leak
* Mouth –dental trauma, soft tissue injuries
* Facial fractures
* Motor function – examine limbs for presence of reflexes and any lateralising weakness
* Perform a formal Glasgow Coma Score
* Consider the possibility of non-accidental injury during secondary survey especially in infants with head injury.
* Other injuries

OMPHALOCELE PIC

An omphalocele is a birth defect in which the infant's intestine or other abdominal organs stick out of the belly button (navel). In babies with an omphalocele, the intestines are covered only by a thin layer of tissue and can be easily seen.
An omphalocele is a type of hernia. Hernia means "rupture.”

Causes
An omphalocele develops as a baby grows inside the mother's womb. The muscles in the abdominal wall (umbilical ring) do not close properly. As a result, the intestine remains outside the umbilical cord.

Approximately 25 - 40% of infants with an omphalocele have other birth defects. They may include genetic problems (chromosomal abnormalities), congenital diaphragmatic hernia, and heart defects.an example is Beckwith-Wiedemann syndrome.

Treatment

Omphaloceles are repaired with surgery, although not always immediately. A sac protects the abdominal contents and allows time for other more serious problems (such as heart defects) to be dealt with first, if necessary.

To fix an omphalocele, the sac is covered with a special man-made material, which is then stitched in place. Slowly, over time, the abdominal contents are pushed into the abdomen.

When the omphalocele can comfortably fit within the abdominal cavity, the man-made material is removed and the abdomen is closed.

Sometimes the omphalocele is so large that it cannot be placed back inside the infant's abdomen. The skin around the omphalocele grows and eventually covers the omphalocele. The abdominal muscles and skin can be repaired when the child is older to achieve a better cosmetic outcome.
Delivery Room Management of the Newborn omphalocele

Testicular microliths in a new born

The above ulltrasound images and Color Doppler image show testicular microliths (left testis) in a new born baby.
Testicular calcifications can occur in any age group; however the occurrence of this condition in a newborn is very rare. The color Doppler study showed normal vascularity in the affected testis.  
Such cases need to be followed up for changes such as germ cell tumor and more benign conditions such as epididymitis, orchitis and varicocele as well as testicular atrophy. Studies show possible link between Testicular microlithiasis in infants and Down's syndrome.

Estrogen as an initial treatment for symptomatic labial adhesions

The initial treatment of choice for symptomatic labial adhesions is :
A) testosterone cream
B) estrogen cream
C) GnRH antagonist
D) hydrocortisone cream
E) surgical separation

Answer and Discussion

The answer is:   ( B ).
Labial adhesions are common in prepubertal females. The cause is thought related to low levels of circulating estrogen. Most women with small areas of labial adhesions are asymptomatic. However, interference with urination or accumulation of urine behind the adhesion can lead to discomfort and symptoms. Dysuria and recurrent vulvar and vaginal infections are associated symptoms. In rare situations urinary retention may occur. Asymptomatic labial fusion usually does not require treatment. Symptomatic adhesions may be treated with a short course of estrogen cream applied twice daily for 7 to 10 days; this may separate the labia.

A new alternative treatment is to use estrogen transdermal patches in close proximity to the labia. When medical treatment fails or if severe urinary symptoms exist, surgical separation of the labia is indicated. This can be done as an office procedure using 1% to 2% topical xylocaine gel. Because of inadequate levels of estrogen, recurrences of labial adhesion are common until puberty. Following puberty, the condition usually resolves spontaneously. Improved hygiene and removal of vulvar irritants may help prevent recurrences.

Heart-Hand syndrome ((Holt-Oram))

Holt-Oram syndrome or heart-hand syndrome, is an inherited disorder characterized by abnormalities of the upper limbs and heart.
People with Holt-Oram syndrome have abnormal development of bones in their upper limbs. At least one abnormality in the bones of the wrist (carpal bones) is present in affected individuals. Often, these wrist bone abnormalities can be detected only by X-ray. Individuals with Holt-Oram syndrome may have additional bone abnormalities including a missing thumb, a long thumb that looks like a finger, partial or complete absence of bones in the forearm, an underdeveloped bone of the upper arm, and abnormalities of the collar bone or shoulder blades.

To see some X-Rays: HERE

The disease is due to mutations in the transcription factor TBX5, which is important in the development of both the heart and upper limbs.
Note that Abnormalities may be unilateral or bilateral and asymmetric ( usually the left side is more affected).

About 75 percent of individuals with Holt-Oram syndrome have some cardiac abnormality. In most patients, the abnormality is either an atrial septal defect (ASD) or a ventricular septal defect (VSD), which varies in number, size, and location.

Umbilical vein catheterization technique

Umbilical vein catheterization may be a life-saving procedure in neonates who require vascular access and resuscitation. The umbilical vein remains patent and viable for cannulation until approximately 1 week after birth.
Umbilical vein catheters (UVC), are used for exchange transfusions, monitoring of central venous pressure, and infusion of fluids (when passed through the ductus venosus and near the right atrium); and for emergency vascular access for infusions of fluid, blood products or medications.
Usually in the emergency department peripheral access is preferred for critically ill newborns and if this is impossible, umbilical vein catheterization may be attempted.

Technique :

# The umbilical cord stump and surrounding abdomen should be sterilized with a bactericidal solution. Sterile drapes should be placed.
# A purse-string suture or umbilical tape is tied around the base of the stump to provide hemostasis and to anchor the line after the procedure.

# Using the scalpel, the cord is cut horizontally, approximately 1.5-2 cm from the abdominal wall. Two thick-walled small arteries and one thin-walled larger vein should be identified. The umbilical vein may continue to ooze blood.
# Hemostasis is achieved through tightening the umbilical tape or suture. The arteries do not usually bleed secondary to vasospasm.
# Forceps are then used to clear any thrombi and dilate the vein.
# A 3.5F catheter is used for preterm newborns, and a 5F catheter is used for full-term newborns.

5F umbilical catheter. Note proximal attachment for stopcock

# The catheter should be flushed with pre-heparinized solution and attached to a closed stopcock.
# The catheter is then grasped 1 cm from its distal tip with the iris forceps and gently inserted, aiming the tip toward the right shoulder. Advance the catheter only 1-2 cm beyond the point at which good blood return is obtained. This is approximately 4-5 cm in a full-term neonate. If resistance is initially met, loosen the umbilical tape or suture and manipulate the angle of approach.

Insertion of umbilical vein catheter

# Do not force the advancement.
# Secure the catheter with a suture through the cord, marker tape, and a tape bridge.
# The position of the catheter must be confirmed radiographically. A properly placed umbilical vein catheter appears to travel cephalad until it passes through the ductus venosus.
# Standardized graphs estimate the length of catheter insertion based on shoulder-to-umbilicus length. Alternatively, the shoulder-to-umbilicus length may be multiplied by 0.6 to determine a length that leaves the tip of the catheter above the diaphragm but below the right atrium.
# In an emergency resuscitation, the catheter is best advanced only 1-2 cm beyond the point at which good blood return is obtained.

No anesthesia is typically required for the procedure.

How is Neuroblastoma Clinically Presentating ?

Neuroblastoma is a childhood cancer that is diagnosed at a median age of about 17 months. Tumors can arise anywhere along the sympathetic nervous system, with the majority occurring in the adrenal medulla. Primary tumors in the neck or upper chest can cause Horner's syndrome (ptosis, miosis, and anhidrosis).
Tumors along the spinal column can expand through the intraforaminal spaces and cause cord compression, with resulting paralysis. Although many lower-stage neuroblastomas are encapsulated and can be surgically excised with little chance of complications, higher-stage tumors often infiltrate local organ structures, surround critical nerves and vessels such as the celiac axis, and are largely unresectable at the time of diagnosis.

Neuroblastomas typically metastasize to regional lymph nodes and to the bone marrow by means of the hematopoietic system. Tumor cells metastatic to marrow can infiltrate cortical bone. Neuroblastomas also can metastasize to the liver, most notably in patients with stage 4S tumors, in whom involvement can be extensive; however, transient and complete regression often occurs with no intervention other than supportive care.

Canavan Disease Pic

Subcortical spongy changes of the white matter. The cortex above is spared. The dark stained neurons are not affected.

Canavan disease, one of the most common cerebral degenerative diseases of infancy, is a gene-linked, neurological birth disorder in which the white matter of the brain degenerates into spongy tissue riddled with microscopic fluid-filled spaces.
It occurs due to a deficiency of the enzyme called Aspartoacylase, since the gene which usually tells the body to produce this enzyme is faulty. Babies are born apparently unaffected. At 2 to 4 months of age, he/she develops poor head control and seizures.